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abdominal pain - Sensation of discomfort, distress, or agony in the abdominal region.

The process of absorbing, specifically: The movement and uptake of substances (liquids and solutions) into cells or across tissues such as skin, intestine, liver and kidney tubules, by way of diffusion or osmosis. ie., carbohydrates into the heme pathway to stop overproduction of porphyrins. 

A colorless, flammable liquid used in the manufacture of acetic acid, perfumes, and flavors. It is also an intermediate in the metabolism of alcohol. It has a general narcotic action and also causes irritation of mucous membranes. Large doses may cause death from respiratory paralysis. Has been known to trigger acute attacks of porphyria.

In medicine, the word acquired means new or added. New in the sense that it is not genetic (inherited) and added in the sense that is was not congenital (present at birth) but came along later acquired mutation

acquired mutation
A change in a gene or chromosome that occurs in a single cell after the conception of the individual. That change is then passed along to all cells descended from that cell.

activated charcoal
A type of carbon produced through exposing a source material such as wood or bone to very high temperatures in the presence of steam, air or carbon monoxide.  Has been used in the treatment of one rare form of porphyria.

activity, drug
A measure of the physiological response a drug produces in the body. A less active drug produces less response and of course a more powerful drug will produce a greater response.

acute hepatic porphyria
A name given to the hepatic forms of porphyria which include ALA-D, AIP, HCP and VP. 

acute intermittent porphyria
One of a  group of metabolic disorders that result from a disturbance in porphyrin metabolism, causing increased formation and excretion of porphyrin or its precursors. AIP as it is known, is the most common of the hepatic acute porphyrias. Acute intermittent porphyria is an inherited form that can result in abdominal pain, and neurological disturbances, as well as in some cases photosensitivity and cutaneous symptoms. AIP form can usually be differntiated measuring  blood serum for a diminished PBG-Deaminase level.  AIP Inheritance is autosomal dominant.

ADP - The abbreviation for ALAD-Deficiency Porphyria.

adverse drug reaction reporting systems
Systems developed for collecting reports from government agencies, manufacturers, hospitals, physicians, and other sources on adverse drug reactions.

adverse effect
This is an abnormal or harmful effect to an organism caused by exposure to a chemical. It is indicated by some result such as death, a change in food or water consumption, altered body and organ weights, altered enzyme levels, or visible illness. An effect may be classed as adverse if it causes functional or anatomical damage, causes irreversible change in the homeostasis of the organism, or increases the susceptibility of the organism to other chemical or biological stress. A non-adverse effect will usually be reversed when the organism is no longer being exposed to the chemical.

air pollutants, environmental - Air pollutants which affect environmental conditions.

ALA - Abbreviation for delta-aminolevulinic acid.

ALAD - Abbreviation for delta-aminolevulinic acid dehydratase.

A protein that is soluble in water and moderately concentrated salt solutions and is coagulable by heat. Serum albumin, the major plasma protein (approximately 60 per cent of the total), which is responsible for much of the plasma colloidal osmotic pressure and serves as a transport protein carrying large organic anions, such as fatty acids, bilirubin and many drugs and also carrying certain hormones, such as cortisol and thyroxine, when their specific binding globulins are saturated. Albumin is synthesised in the liver. Low serum levels occur in protein malnutrition, active inflammation and serious hepatic [such as porphyria] and renal disease.

A liver enzyme that plays a role in protein metabolism, like AST . Elevated serum levels of ALT are a sign of liver damage from isease or drugs. The ALT will quite often be elevated in the liver enzyme tests of porphyria patients. Synonym: serum glutamic pyruvic transaminase.

aminolevulinic acid
A chemical name for  Pentanoic acid, 5-amino-4-oxo-   Also known as ALA.

The loss of feeling or sensation. Although the term is used for loss of tactile sensibility or of any of the other senses, it is applied especially to loss of the sensation of pain, as it is induced to permit performance of surgery or other painful procedures.

A specialty concerned with the study of anesthetics and anesthesia.

A medical specialist practiced in the administration of all forms of anaesthesia (general, spinal block, local, regional)

anti-anxiety agents
Agents that alleviate anxiety, tension, and neurotic symptoms, promote sedation, and have a calming effect without affecting clarity of consciousness or neurologic conditions. Some are also effective as anticonvulsants, muscle relaxants, or anesthesia adjuvants. Adrenergic beta-antagonists are commonly used in the symptomatic treatment of anxiety but are not included here. Substances with a benzodiazepine ring structure widely used to treat anxiety and neuroses. Drugs in this class also generally have sedative or weak hypnotic properties and may be effective as muscle relaxants, anticonvulsants, and anaesthesia adjuvants. Many of these are considered UNSAFE in porphyria patients.  Be sure to check and see if it is a cyctochrome P-450 drug.

A chemical substance produced by a microorganism which has the capacity, in dilute solutions, to inhibit the growth of or to kill other microorganisms. Antibiotics that are sufficiently nontoxic to the host are used as chemotherapeutic agents in the treatment of infectious diseases of man 

antibiotics, antifungal
Antibiotics inhibiting the growth of or killing fungi and used in the treatment of various fungal diseases. Many anti-fungal medications are considered UNSAFE for porphyria patients.

An agent that prevents or relieves convulsions. Most anticonvulsants medicationsare considered UNSAFE for porphyria patients.

A drug  that stimulates the mood of a depressed patient, including tricyclic antidepressants and monoamine oxidase inhibitors. Most are considered UNSAFE for porphyria patients.

Virus coded cell surface antigens that appear soon after the infection of a cell by virus, but before virus replication has begun. A foreign substance or organism which causes the body to form an antibody that responds only to that antigen.  Antigens can cause allergic reactions in some people.

anti-inflammatory -  Counteracting or suppressing inflammation.

Synthetic or natural substances added to products to prevent or delay their deterioriation by action of oxygen in air. In biochemistry and medicine, antioxidants are enzymes or other organic substances, such as vitamin e or beta-carotene, that are capable of counteracting the damaging effects of oxidation in animal tissue.

This is a glycoprotein produced in the liver which is the major antiprotease in the blood, serving mainly to inhibit leukocyte elastase.

The unpleasant emotional state consisting of psychophysiological responses to anticipation of unreal or imagined danger, ostensibly resulting from unrecognised intrapsychic conflict.  Physiological concomitants include increased heart rate[tachycardia],  altered respiration rate, sweating, trembling,weakness and fatigue, psychological concomitants include feelings of impending danger, powerlessness, fear, apprehension and tension.

APF - American Porphyria Foundation

ascorbic acid deficiency
A condition due to a dietary deficiency of ascorbic acid (vitamin c), characterised by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of haemorrhage. Ascorbic acid is another name for Vitamin C.  Such deficiency is often noted in PCT [porphyria cutaneous tarda].

The determination of the amount of a particular constituent of a mixture or of the biological or pharmacological potency of a drug, or in laboratory testing of a urine collection in which the various porphyrins are noted and used in diagnosis of a particular type of porphyria.

A liver enzyme that plays a role in protein metabolism, like ALT . Elevated serum levels of AST are a sign of liver damage from disease or drugs. AST is often elevated in the lipids panel test run on hepatic porphyria patients. Another name for AST is serum glutamic oxaloacetic transaminase.

asymptomatic - Without obvious signs or symptoms of disease.

autonomic - Self controlling, functionally independent.

autosomal dominant
Requires only one affected parent have the trait to pass it to offspring.  AIP porphyria is autosomal dominant.

autosomal recessive
Mutation carried on an autosome that is deleterious only in homozygotes.

bacterial infection
Bacteria are group of micro-organisms that are a single cell. Some bacteria cause disease in man, requiring treatment with an antibiotic. Bacterial infections can trigger attacks of acute intermittent porphyria.

barium contrast material
This radiopaque contrast material is either swallowed or given as a enema for the purpose of demonstrating the anatomy of the gastrointestinal tract using X-rays.

barium enema
A radiographic diagnostic procedure that involves the introduction of a barium containing contrast material into the lower gastrointestinal tract via the anus. X-rays taken after instillation of the barium will
outline the course and anatomy of the lower GI tract.

behaviour therapy
The application of modern theories of learning and conditioning in the treatment of behaviour disorders

A class of drug widely used in medical practice as CNS depressants, for example diazepam  which is a tranquilizer called Valium.  Enhance the inhibitory action of GABA by modulating GABAAreceptors.  The benzodiazepine classification of drugs are considered UNSAFE DRUGS for persons who have porphyria.

beta blockers
A class of drugs that block the action of adrenaline (a beta adrenergic substance) and can relieve stress to the heart muscle. Beta blockers are often used to slow the heart rate or lower the blood pressure. Porphyria patients must be sure to double check an UNSAFE DRUG list for each type of beta blocker drug.

A popular tradename iodine-containing topical antiseptic agent. Porphyria patients with sensitive or allergic reaction to iodine should avoid this drug.

To be taken twice a day (morning and evening). Often used in medical charting and sometimes on prescription labels.

bilateral - Having two sides or pertaining to both sides.

A pigment produced when the liver processes waste products. A high bilirubin level causes yellowing of the skin.  Bilirubin is one of the many tests in a Liver Panel.

A specific biochemical in the body which has a particular molecular feature that makes it useful for measuring the progress of disease or the effects of treatment. Used as in DNA.

A biopsy refers to a procedure that involves obtaining a tissue specimen for microscopic analysis to establish a precise diagnosis. Biopsies can be accomplished with a biopsy needle (passed through the skin into the organ in question) or by open surgical incision.

blood cell count
A count of the number of leukocytes and erythrocytes per unit volume in a sample of venous blood. A complete blood count (cbc) also includes measurement of the haemoglobin, haematocrit, and erythrocyte indices.

blood clot
The conversion of blood from a liquid form to solid through the process of coagulation. A thrombus is a clot which forms inside of a blood vessel. If that clot moves inside the vessel it is referred to as an embolus (embolism). The presence of atherosclerotic plaque lining blood vessel walls is a significant stimulus for clot formation. Porphyria patients receiving intervenous infusion often experience blood clot formation.

[Full] Blood Count
The determination of the proper number of red blood cells, white blood cells and platelets are present in the patients blood.

blood platelets
Non-nucleated disk-shaped cells formed in the megakaryocyte and found in the blood of all mammals. They are mainly involved in blood coagulation.

blood porphyrin level
A test which is used to measure red blood cell porphyrin levels. Porphyrins are pigments found in both animal and plant life. This test is useful in evaluating any number of porphyrin disorders (involving the various porphyrins) of red blood cells. Increased levels of coproporphyrins can indicate congenital erythropoietic porphyria or sideroblastic anemia. Increased protoporphyrins may be seen in infection, thalassemia, sideroblastic anaemia, iron deficient anemia, increased erythropoiesis and lead poisoning. Increased uroporphyrins may indicate congenital erythropoietic porphyria or erythropoietic protoporphyria.

blood pressure
The force that the circulating blood exerts on the walls of the arteries.  This measurement is divided into systolic (pressure during contraction of the heart) and diastolic (pressure during relaxation phase). Blood pressure varies with age and sex of the individual. A rough rule of thumb for normal systolic pressure is 100 + Age of individual. In children 2 x (age) + 80 = systolic BP The diastolic pressure should be roughly 2/3 the systolic pressure.

BMR  -  basal metabolic rate
he metabolic rate as measured under basal conditions: 12 hours after eating, after a restful sleep, no exercise or activity preceding test, elimination of emotional excitement and occurring in a comfortable temperature.

bolus injection
The injection of a drug (or drugs) in a high quantity (called a bolus) at once, the opposite of gradual administration (as in intravenous infusion). For hepatic porphyria patients receiving glucose infusion, quite often a D-50 bolus will be given at the onset of intervention care. It is given quickly and in one large syringe.

bone marrow
The soft, spongy tissue found in the centre of most large bones that produces the cellular components of blood: white cells, red cells and platelets (haemopoiesis). It is also the most
radiation sensitive tissue of the body.

breathing rate
Also referred to as the respiratory rate. Measured as the number of breaths taken every minute. Normal resting adult respiratory rates are from 16-20 breaths per minute. Often during the onset of an acute attack breathing can become difficult. In some cases such breathing difficulty exacerbates to bulbar paralysis and/or respiratory paralysis.

calcium channel blocker
A drug that blocks the entry of calcium into cells, thereby preventing cell death and loss of function caused by excess calcium.  Calcium channel blockers are used primarily in the treatment of certain heart conditions and stroke. However most calcium channel blockers are now considered UNSAFE DRUGS for porphyria patients.

calcium, dietary
Calcium compounds used as food supplements or in food to supply the body with calcium. Dietary calcium is needed during growth for bone development and for maintenance of skeletal integrity later in life to prevent osteoporosis.

A unit of measurement defined as 4.184 absolute joules or the amount of energy it takes to raise the temperature of one gram of water from 15 to 16 degrees Celsius (or1/100th the amount of
energy needed to raise the temperature of one gram of water at one atmosphere pressure from 0 degrees C to 100 degrees C), food calories are actually equal to 1,000 calories (1 food calorie = 1

A yeast infection with a fungus of the genus Candida. It is usually a superficial infection of the moist cutaneous areas of the body and is generally caused by Candida albicans, it most commonly involves the skin (dermatocandidiasis), oral mucous membranes (oral candidiasis), respiratory tract (bronchocandidiasis) and vagina (vaginal candidiasis or thrush). Rarely there is a systemic infection or endocarditis. Oral candidiasis: describes a fungal (yeast) infection of the oral cavity due to Candida Oesophageal candidiasis: Infection of the oesophagus by the yeast-like fungus Candidal albicans. Usually occurs in the immunocompromised individual following chemotherapy. Oral candidiasis is a predisposing factor but oesophageal involvement can occur without evidence of infection in the oral cavity. Symptoms include difficulty swallowing, pain on swallowing and oral lesions. Diagnosis is made using endoscopy. Treatment is with antifungal agents such as ketoconazole or fluconazole. Synonym: moniliasis, candidosis, oidiomycosis, blastodendriosis.  Candidiasis is often noted in porphyria patients after longtime glucose infusion or carbohydrate loading.  The use of ketoconazole or fluonazole however are considered UNSAFE DRUGS for persons who have porphyria.

Very abundant compounds, usually an aldehyde or ketone derivative of a polyhydric alcohol, particularly of the pentahydric and hexahydric alcohols. They are so named because the hydrogen and oxygen are usually in the proportion to form water with the general formula Cn(H2O)n. The most important carbohydrates are the starches, sugars, celluloses and gums. They are classified into mono, di, tri, poly and heterosaccharides. The smallest are monosaccharides like glucose whereas polysaccharides such as starch, cellulose or glycogen can be large and indeterminate in length. Acute hepatic porphyria patients must be sure to have a minimum of 400 mg of carbohydrate per 24 hours to bring an attack under control. During remission a porphyria patient must be sure to consume at least 350 mg  minimum of carbohydrate.

carbohydrate metabolism
The breakdown of starches and sugars into smaller units that can be used by the body for energy.

carbon dioxide blood level
A measure of the bicarbonate level in the blood based on a venipuncture specimen. The serum carbon dioxide is one of the normally reported values in the electrolytes profile. Lower levels of carbon dioxide indicate an acidosis. The normal level is 20 to 29 mEq/L. Lower than normal levels can indicate diabetic ketoacidosis, lactic acidosis, alcoholic ketoacidosis, kidney disease, renal failure, diarrhoea, Addison's disease, ethylene glycol poisoning or methanol poisoning. Greater than normal levels can be seen with excessive vomiting, which often accompanies the onset of an acute porphyria attack.

An individual who has a gene pair in which one of the genes is flawed.  The presence of the flawed gene is masked by the dominant functional gene.

carrier test
A genetic test performed to determine if a healthy individual has a flawed gene which, if expressed in his or her children, could lead to a genetic disorder. This is used in testing children of porphyria patients to determine if their children have the flawed gene which can either remain latent or become acute.

cat scan -- computed tomography
A special radiographic technique that uses a computer to assimilate multiple X-ray images into a 2 dimentional cross-sectional image. This can reveal many soft tissue structures not shown by conventional radiography. Scans may also bedynamic in which a movement of a dye is tracked. Cuts may be 5 or 10 mm apart or, in some instances even further apart. A special dye material may be injected into the patients vein prior to the scan to help differentiate abnormal tissue and vasculature. Porphyria patients must always notify radiologists that they are porphyric and doublecheck all dye materials against the UNSAFE DRUG list.

CNS   central nervous system
Pertaining to the brain, cranial nerves and spinal cord. It does not include muscles or peripheral nerves. In the acute porphyrias the CNS is actively involved. In invertebrates, the central nervous system is composed of the segmental ganglia of the ventral nerve cord together with the fused ganglia or brain at the anterior end.

central venous catheter
Small, flexible plastic tube inserted into the large vein above the heart, through which drugs and blood products can be given and blood samples withdrawn painlessly. A CVC is also called a central line, or  Hickman catheter.

central venous line --central venous catheter
Small, flexible plastic tube inserted into the large vein above the heart, through which drugs and blood products can be given and blood samples withdrawn painlessly. A central venous line is
also called  central line, or a Hickman catheter.

chest wall pain
Chest pain that originates from a noncardiac cause. Chest wall pain typically involves an inflammatory condition of the muscles, bones or joints that comprise the thorax.

chloral hydrate
A hypnotic and sedative used in the treatment of insomnia. The safety margin is too narrow for chloral hydrate to be used as a general anaesthetic in humans, but it is commonly used for that purpose in animal experiments. It is no longer considered useful as an anti-anxiety medication. Pharmacological action: sedatives, nonbarbiturate, anaesthetics, intravenous. At one time used for porphyria patients during attacks, it is no longer considered safe.

A toxic, viscous, colourless chlorinated organic chemical that is used asan insecticide and as a fumigant. The EPA has restricted use of this chemical except for subsurface termite control and on non-food plants. Symptoms of poisoning include convulsions and depression. Chronic exposure can cause liver damage and possibly cancer.  Exposure is also thought to trigger acute porphyria.

An antimalaria drug used to treat some forms of skin disease and allergic reactions to light. Used in some cutaneous forms of porphyria.

Neuroleptic aliphatic phenothiazine, thought to act primarily as dopamine antagonist, but also antagonist at _ adrenergic, H1 histamine, muscarinic and serotonin receptors. Used clinically as an antiemetic. Often used in suppository form for treatment of acute porphyria patients during the onset of an attack to bring nauseas and vomiting under control.

A term that describes the surgical removal of the gallbladder. Often this surgery is performed unnecessarily in acute porphyria patients before a porphyria diagnosis has been confirmed.

chromosomal - Pertaining to chromosomes.

chromosome mapping
The mapping of the relative locations of genes on a chromosome by analysing linkage frequencies (how often different genes are inherited together) and crossover frequencies (how often different combinations of three or more genes are inherited)

chronic illiness
An illness whose symptoms persist for longer than six weeks.

chronic toxicity
Illness caused by repeated or long-term exposure to low doses of a toxic substance.

clinical chemistry tests
Laboratory tests demonstrating the presence of physiologically significant substances in the blood, urine, tissue, and body fluids with application to the diagnosis or therapy of disease.

clinical protocols
Precise and detailed plans for the study of a medical or biomedical problem and/or plans for a regimen of therapy.

clinical trial
Research study conducted with patients, usually to evaluate a new treatment or drug. Each trial is designed to answer scientific questions and to find better ways to treat individuals with a specific disease.

The mental process of knowing, thinking, learning and judging. Often during acute attacks of porphyria cognitive abilities are lessened.

An endoscopic (fibreoptic) examination of the large intestine (colon).

Disturbed orientation in regard to time, place or person, sometimes accompanied by disordered consciousness. Often presents during onset of an acute attack of porphyria. Also termed as mental change.

Existing at and usually before, birth, referring to conditions that are present at birth, regardless of their causation.

congenital porphyria - Another name for CEP porphyria.

congenital erythropoietic porphyria - A congenital porphyria also know as CEP.

Problems in passing stools from the bowel.  ALmost 90% of all hepatic porphyria patients experience constipation during an acute attack.

contrast media
Side-effects from high osmolality / viscosity (fluid shifts from different compartments), vasodilatation, heat, pain, osmotic diuresis, haemodynamic changes, pharmacokinetics, distribute volume into extracellular space, clearance by glomerular filtration and renal excretion, physiologic reaction, increased plasma osmolality causes fluid shift from RBCs and pulmonary tissue leading to increased plasma volume, then osmolar gradient reverses with passage of contrast bolus to pulmonary capillary endothelium leaks protein into pulmonary interstitium leading to increased pulmonary oedema, transient cardiovascular changes (magnitude increased with tonicity of medium), increased PAP, increased CO with decreased peripheral/pulmonary vascular resistance, decreased systemic arterial pressure (variable), may activate gen receptors causing side effects. All porphyria patients undergoing radiological testing requiring a contrast media should notify the radiologist that they are porphyric and also double check all contrast media contents against the UNSAFE DRUG list.

Another name for HCP or heriditary coporporphyria which is one of four acute hepatic porphyria.

cytochrome p-450
Isozymes which are key components of the mixed-function oxidase system responsible for the biotransformation of many foreign compounds to mutagens and carcinogens. Most mammals have several distantly related phenobarbital-inducible gene subfamilies. In porphyria cytochrome P-450 drugs must be avoided.  Such drugs have been known to trigger acute attacks and trigger liver damage.

This chlorinated organic insecticide was discovered by Swiss chemist Paul Muller in 1939. DDT has been especially useful in controlling mosquitos that carry malaria, but some strains of the insects have become resistant to it. DDT has comparatively low acute toxicity in humans although it is thought to cause cancer as wqell as to trigger episodes of acute porphyria.DDT which is now banned in the U.S. persists for a longtime in the environment.  It is still in prevalent use in Third World Countries.

defoliants, chemical
Herbicides that remove leaves from trees and growing plants. They may be either organic or inorganic. Several of the more persistent types have been used in military operations and many are toxic. Persons with known porphyria should avoid use of such material or exposure to it.

The condition that results from excessive loss of body water.

An acute, reversible organic mental disorder characterised by reduced ability to maintain attention to external stimuli and disorganised thinking as manifested by rambling, irrelevant or incoherent speech. There are also a reduced level of consciousness, sensory misperceptions, disturbance of the sleepwakefulness cycle and level of psychomotor activity, disorientation to time, place or person and memory impairment. Delirium may be caused by a large number of conditions resulting in derangement of cerebral metabolism, including systemic infection, poisoning, drug intoxication or withdrawal, seizures or head trauma and metabolic disturbances such as hypoxia, hypoglycaemia, fluid, electrolyte[porphyria]  or acid base imbalances or hepatic or renal failure. 0ther names for this condition include acute confusional state,  and acute brain syndrome.

A trademark for a narcotic drug that relieves pain.  It is also known as meperidine and is used extensively in pain management of acute porphyria attacks.

The destruction of the protective myelin sheath that surrounds nerve fibres, resulting in the loss of function of those nerves. Demyelinisation happens in some degenerative nerve diseases like multiple sclerosis, polio, and the advanced peripheral neuropathy of porphyria.

A lowering or decrease of functional activity. . <psychiatry> A mental state of depressed mood characterised by feelings of sadness, despair and discouragement. Depression ranges from normal feelings of the blues through dysthymia to major depression. It is often a part of the mental change that takes place with porphyria. It in many ways resembles the grief and mourning that follow bereavement, there are often feelings of low self esteem, guilt and self reproach, withdrawal from interpersonal contact and somatic symptoms such as eating and sleep disturbances.

Inflammation of the skin.  Found in the cutaneous forms of porphyria.

dermatitis, allergic contact
A contact dermatitis due to allergic sensitization to various substances. These substances subsequently produce inflammatory reactions in the skin of those who have acquired hypersensitivity to them as a result of prior exposure.

dermatitis, photoallergic
A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitised. It  manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.

dermatitis, phototoxic
A nonimmunologic, chemically induced type of photosensitivity producing a sometimes vesiculating dermatitis. It results in hyperpigmentation and desquamation of the light-exposed areas of the skin.

A medical specialist expert in the treatment of disorders of the skin. A dermatologist would be the specialist dealing with cutaneous symptoms of porphyria.

diagnosis - The determination of the nature of a case of disease.

diagnosis, differential
The determination of which two or more diseases with similar symptoms is the one from which a patient is suffering from based on an analysis of the clinical data.

Refers to something that is used to determine the cause of an illness or disorder.

A morbidly frequent and profuse discharge of loose or fluid evacuations from the intestines, without tenesmus; a purging or looseness of the bowels; a flux.

dietary carbohydrates
Carbohydrates present in food comprising digestible sugars and starches and indigestible cellulose and other dietary fibers. The former are the major source of energy. The sugars are in beet and cane sugar, fruits, honey, sweet corn, corn syrup, milk and milk products, etc.; the starches are in cereal grains, legumes, tubers, etc. In patients with hepatic forms of porphyria, a peron should consume at least 350 mg of carbohydrate per day, or the carbohydrates should make up 60-65% of the daily consumption.

This antihistamine medication is used to treat allergies (hay fever, rashes, etc.) and postoperative nausea and vomiting. It can cause sleepiness and generally acts as a sedative. This drug should generally be avoided by hepatic porphyria patients.

direct bilirubin
Conjugated bilirubin = Direct bilirubin. Bilirubin that has been chemically attached to a glucuronide in the liver. The bilirubin that is excreted into the bile by the liver and stored in the gallbladder or transferred to the duodenum. Normal direct bilirubin is 0 to 0.3 mg/dl. Greater than normal values can be seen in bile duct obstruction, cirrhosis, Crigler-Najjar syndrome, Dubin-Johnson syndrome and hepatitis.

State of being disabled; deprivation or want of ability; absence of competent physical, intellectual, or moral power, means, fitness, and the like. Want of legal qualification to do a thing; legal incapacity or incompetency Disability, Inability. Inability is an inherent want of power to perform the thing in question; disability arises from some deprivation or loss of the needed competency. One who becomes deranged is under a disability of holding his estate. and one who is made a judge, of deciding in his own case

The state of being distended or enlarged, the act of distending.  During the onset of an acute attack of porphyria the distention of the abdomen is often noted.

Agents that promote the excretion of urine through their effects on kidney function.

DNA - Deoxyribonucleic acid
The molecule that encodes genetic information in the nucleus of cells. It determines the structure, function and behavior of the cell. DNA is a double-stranded molecule held together by weak bonds between base pairs of nucleotides.The four nucleotides in DNA contain the bases: adenine (A), guanine (G), cytosine (C), and thymine (T).

drug delivery - The method and route used to provide medication.

drug-drug interaction
The effects that occur when two or more drugs are used together. Such effects include changes of absorption in the digestive tract, changes in rate of the drugs' breakdown in the liver, new or enhanced side effects and changes in the drugs' activity.

drug incompatibility
The quality of not being miscible with another given substance without a chemical change. One drug is not of suitable composition to be combined or mixed with another agent or substance. The
incompatibility usually results in an undesirable reaction, including chemical alteration or destruction.

drug induced hepatitis
Inflammation of the liver that is caused by a drug. Some medications may cause inflammation of the liver as a drug side effect or drug toxicity. Drugs that are known to cause hepatitis include acetaminophen, isoniazid, halothane, methyldopa, erythromycin and oral contraceptives.

drug interaction
A chemical or physiologic reaction that can occur when two different medications are taken together. Example: the effect of drug A can be increased when taken with drug B.

drug, over-the-counter [OTC] - Drug for which a prescription is not needed.

drug, prescription
A drug requiring a prescription, a physician's order. By comparison with an over-the-counter drug.

drugs, chinese herbal
Chinese herbal or plant extracts which are used as drugs to treat diseases or promote general well-being. The concept does not include synthesised compounds manufactured in china.

drugs, generic
Drugs whose drug name is not protected by a trademark. They may be manufactured by several companies.

drugs, investigational
Drugs which have received FDA approval for human testing but have yet to be approved for commercial marketing. This includes drugs used for treatment while they still are undergoing clinical trials
An example would be Heme Arginate which is used for acute hepatic porphyria treatment.

drug side effect
An often undesirable effect that occurs in association with the use of a particular medication.  Examples of common drug side effects include: nausea, vomiting, sedation, dizziness, headache and weakness. Drug side effects that occur in 1% or more, of patients taking a particular medication are considered to be causally related to the use of that medication.

drug toxicity
The systemic effects of a drug that are related to the overall level of the medication in the bloodstream. Drug toxicity may occur with overdosage of a medication, accumulation of the drug in the body over time or the inability of the patients body to eliminate the drug.

The impairment of the power of voluntary movement, resulting in fragmentary or incomplete movements.

dysuria - Painful or difficult urination.

EEG --electroencephalogram
A diagnostic test which measures the electrical activity of the brain (brain waves) using high sensitive recording equipment attached to the scalp by fine electrodes. Commonly employed in the evaluation of neurological disease for example seizures associated with porphyria attacks.

A substance that dissociates into ions when fused or in solution and thus becomes capable of conducting electricity, an ionic solute.

electrolyte imbalance
An inappropriate level of a blood electrolyte. Typically this relates to abnormal level of sodium, potassium or chloride in the bloodstream. In porphyria this often leads to mental changes.

EMG -- electromyography
A test which measures muscle response to nerve stimulation. Used to evaluate muscle weakness and to determine if the weakness is related to the muscles themselves or a problem with the nerves that supply the muscles. Abnormal results may be seen in myasthenia gravis, polymyositis, carpal tunnel syndrome,amyotrophic lateral sclerosis, alcoholic neuropathy, cervical spondylosis, dermatomyositis, familial periodic paralysis, Guillain-Barre syndrome, Lambert-Eaton syndrome, Friedreich's ataxia, mononeuritis multiplex, peripheral neuropathy due to porphyria, sciatic nerve disease and a variety of peripheral nerve disorders including porphyria.

An expensive and usually highly flexible viewing instrument with capabilities of diagnostic (biopsy) or even therapeutic functions through special channels. For the flexible variety the additional word, fibreoptic is added. The viewing component is made up of hundreds of mini light transmitting glass fibres bundled tightly together. Today there is virtually an endoscope available for every single orifice and space in the body! Endoscopes have also revolutionalised many procedures - as in laparasocopic surgery, the diagnosis of peptic ulcers, of some lung tumours and those in the urogenital tract. Most porphyria patients experience the endoscope during diagnostic procedures concerning the abdominal pain associated with acute attacks.

endoscopy, upper
A procedure that enables the examiner (usually a gastroenterologist ) to examine the oesophagus (swallowing tube ), stomach, and duodenum ( first portion of small bowel ) using a thin flexible tube (a scope ) that can be looked through or seen on a TV monitor. Also known as oesophagogastroduodenoscopy or EGD.

environmental exposure
The exposure to potentially harmful chemical, physical, or biological agents in the environment or to environmental factors that may include ionizing radiation, pathogenic organisms, or toxic chemicals.

A protein molecule produced by living organisms that catalyses chemical reactions of other substances without itself being destroyed or altered upon completion of the reactions. Enzymes are classified according to the recommendations of the Nomenclature Committee of the International Union of Biochemistry. Each enzyme is assigned a recommended name and an Enzyme Commission (EC) number. They are divided into six main groups, oxidoreductases, transferases, hydrolases, lyases, isomerases and ligases.

enzyme defect
A disorder resulting from a deficiency (or functional abnormality) of an enzyme. In 1902 Archibald Garrod first attributed a disease to an enzyme defect: an inborn error of metabolism. Today, newborns are routinely screened for certain enzyme defects.

The paroxysmal transient disturbances of brain function that may be manifested as episodic impairment or loss of consciousness, abnormal motor phenomena, psychic or sensory disturbances or perturbation of the autonomic nervous system. Symptoms are due to paroxysmal disturbance of the electrical activity of the brain. On the basis of origin, epilepsy is idiopathic (cryptogenic, essential, genetic) or symptomatic (acquired, organic). On the basis of clinical and electroencephalographic phenomenon, four subdivisions are recognized.

An abbreviation for Erythropoietic Protoporphyria, also known as Protoporphyria.

A disease of cereal plants (rye, wheat, etc.) caused by the fungus Claviceps purpurea, this fungus produces toxic alkaloids that, if ingested, cause symptoms such as hallucinations, severe astrointestinal upset, a burning sensation in the limbs and extremities (St. Anthony's Fire) and a form of gangrene. Ergots or drugs containing ergots are UNSAFE DRUGS for porphyria patients.

A vasoconstrictor found in ergot of central europe. It is an alpha-1 selective adrenergic agonist and is commonly used in the treatment of migraine headaches. Pharmacological action: adrenergic alpha-agonists, analgesics, non-narcotic, vasoconstrictor agents. Considered UNSAFE for porphyria patients.

The hemoglobin containing cell found in the blood or vertebrates.

A name applied to redness of the skin produced by congestion of the capillaries, which may result from a variety of causes, the aetiology or a specific type of lesion often being indicated by a modifying term.

erythropoietic protoporphyria    EPP
A group of metabolic disorders that result from a disturbance in porphyrin metabolism, causing increased formation and excretion of porphyrin or its precursors. Acute intermittent porphyria is a inherited (autosomal dominant) form that can result in abdominal pain, photosensitivity and neurological disturbances. The various forms can be differntiated measuring various blood prophyrins. The inheritance is autosomal dominant.

exacerbation - An increase in the severity of a disease of its symptoms.

The sequences of the primary RNA transcript (or the DNA that encodes them) that exit the nucleus as part of a messenger RNA molecule. In the primary transcript neighbouring exons are separated by introns.

faecal [fecal] - Pertaining to or of the nature of faeces.

faeces [feces]
The excrement discharged from the intestines, consisting of bacteria, cells exfoliated from the intestines, secretions, chiefly of the liver and a small amount of food residue.

false negative
A term used to indicate a test showed an incorrect negative result.

false positive - A test result that is read as positive when it is really negative.

false positive reactions
Positive test results in subjects who do not possess the attribute for which the test is conducted. The labeling of healthy persons as diseased when screening in the detection of disease.

familial - Occurring in families. An inherited disorder or trait.

family history
The medical history of your immediate blood relatives (mother, father, grandparents and siblings)

family physician
A physician expert in the management of a wide scope of health problems in adults and children. A family physician was once  referred to as a general practitioner or family practice physicians.

fasting - Abstaining from all food.

fasting blood glucose
A method for finding out how much glucose (sugar) is in the blood. The test can show if a person has diabetes. A blood sample is taken in a lab or doctor's office. The test is usually done in the morning before the person has eaten. The normal, nondiabetic range for blood glucose is from 70 to 110 mg/dl, depending on the type of blood being tested. If the level is over 140 mg/dl, it usually means the person has diabetes. Porphyria patients need to be advised that they should be tested regular for gluocse because of the high levels of carbohydrates consumed.

fasting glucose
A measurement of the blood glucose in the morning prior to the ingestion of any food for the prior 12 hours.

That state, following a period of mental or bodily activity, characterised by a lessened capacity for work and reduced efficiency of accomplishment, usually accompanied by a feeling of weariness, sleepiness, or irritability.

FDA --food and drug administration
The U.S. Agency responsible for regulation of biotechnology foodproducts. The major laws under which the agency has regulatory powersinclude the Food, Drug, and Cosmetic act, and the Public Health Service Act.

feces --faeces
The excrement discharged from the intestines, consisting of bacteria, cells exfoliated from the intestines, secretions, chiefly of the liver and a small amount of food residue.

An enzyme widely distributed in cells and tissues. It is located in the inner mitochondrial membrane and catalyzes the formation of haem from protoporphyrin ix and ferrous ions during the terminal step in the haem biosynthetic pathway. The chemical name is Protoheme ferro-lyase

A rise in body temperature above normal usually as a natural response to infection. Typically an oral temperature greater than 100.4 degrees Fahrenheit constitutes a fever.

The presence of excessive amounts of air or gases in the stomach or intestine, leading to distention of the organs.

An antifungal drug that is FDAapproved for oral candidiasis and cryptococcal meningitis. It is still under study for vaginal candidiasis and other fungal infections. Possible side effects include liver injury, anaphylaxis and skin peeling.   This pharmaceutical is not reccommended for porphyria patients.

fluid retention
An abnormal accumulation of fluid in cells, tissues or body cavities that results in swelling.

8-fluoro-5,6-dihydro-5-methyl-6-oxo-4h-imidazol(1,5-a)(1,4)benzodiazepine-3-carboxylic acid ethyl ester. A potent benzodiazepine receptor antagonist. Since it reverses the sedative and other
actions of benzodiazepines, it has been suggested as an antidote to benzodiazepine overdoses.

The emission of one or more photons by a molecule or atom activated by the absorption of a quantum of electro magnetic radiation. Typically the emission, that is of longer wavelength than the excitatory radiation, occurs within 10exp 8seconds: phosphorescence is a phenomenon with a longer or much longer delay in re radiation. Note that rays, X-rays, UV, visible light and IR radiations may all stimulate fluorescence.

An x-ray procedure that makes it possible to see internal organs in motion.

folic acid
Pteridine derivative that is abundant in liver and green plants and is a growth factor for some bacteria. The biochemically active form is tetrahydrofolate.

food deprivation
The withholding of food in a structured experimental situation.

food-drug interactions
The pharmacological result, either desirable or undesirable, of drugs interacting with components of the diet.

food preservatives
Substances capable of inhibiting, retarding or arresting the process of fermentation, acidification or other deterioration of foods. Some porphyria patients may be sensitive to certain food preservative materials.

Commonly used fixative and antibacterial agent. As a fixative it is cheap and tends to cause less denaturation of proteins than does glutaraldehyde, particularly if used in a well buffered solution (buffered formalin, formal saline). Old formaldehyde solutions usually contain cross linking contaminants and it is therefore often preferable to used a formaldehyde generating agent such as paraformaldehyde. Formalin fumes, particularly in conjunction with HCl vapour, are potently carcinogenic. Formaldehyde is also thought to be a triggering substance for acute porphyria attacks among some porphyria patients.

Lists of drugs or collections of recipes, formulas, and prescriptions for the compounding of medicinal preparations. Formularies differ from pharmacopoeias in that they are less complete, lacking full descriptions of the drugs, their formulations, analytic composition, chemical properties, etc. In hospitals, formularies list all drugs commonly stocked in the hospital pharmacy.

A 6 carbon sugar (hexose) abundant in plants. Fructose has its reducing group (carbonyl) at C2 and thus is a ketose, in contrast to glucose that has its carbonyl at C1 and thus an aldose. Sucrose, common table sugar, is the nonreducing disaccharide formed by an alpha linkage from C1 of glucose to C2 of fructose (latter in furanose form). Fructose is a component of polysaccharides such as inulin, levan.

Chemicals that kill or inhibit the growth of fungi in agricultural applications, on wood, plastics, or other materials, in swimming pools, etc. Many fungicides are thought to be unsafe for use around porphyria patients, and may possibly trigger acute attacks.

GABA --gamma aminobutyric acid
An important amino acid which functions as the most prevalent inhibitory neurotransmitter in the central nervous system. Gamma aminobutyric acid works in partnership with a derivative of Vitamin B-6, pyridoxine, to crossfrom the axons to the dendrites through the synaptic cleft, in response to an electrical signal in the neuron and inhibits message transmission. This helps control the nerve cells from firing too fast, which would overload the system. The action of gamma aminobutyric acid decreases epileptic seizures and muscle spasms by inhibiting electrical signals in this manner. Studies have shown that the site of action in the brain of benzodiazepams, including Valium, is directly coupled to the brain receptor for gamma aminobutyric acid.

A medical doctor  qualified as a specialist in internal medicine who has subspecialized in the diseases of the digestive system, including the liver. Many porphyria patients have a gastroenterologist as their main porphyria specialist.

Pertaining to or communicating with the stomach and intestine, as a gastrointestinal fistula.

Examination of the abdomen or stomach, as with the gastroscope.

Originally defined as the physical unit of heredity, it is probably best defined as the unit of inheritance that occupies a specific locus on a chromosome, the existence of which can be confirmed by the occurrence of different allelic forms. Genes are formed from DNA, carried on the chromosomes and are responsible for the inherited characteristics that distinguish one individual from another. Each human individual has an estimated 100,000 separate genes. Given the occurrence of split genes, it might be redefined as the set of DNA sequences (exons) that are required to produce a single polypeptide. Very important in the study and understanding of porphyria.

gene mapping
Determination of the relative positions of genes on a DNA molecule (chromosome or plasmid) and of the distance, in linkage units or physical units, between them.

gene testing
Testing a sample of blood (or another fluid or tissue) for evidence of a gene. The evidence can be biochemical, chromosomal, or genetic. The aim is to learn whether a gene for a disease is present or absent.

gene therapy
Treatment of a disease caused by malfunction of a gene, by stably transfecting the cells of the organism with the normal gene.

general anesthesia 
A form of anesthesia that results in putting the patient to sleep. Total body anesthesia. Any person with porphyria should notify the anesthiologist in advance that they have porphyria in order to avoid UNSAFE DRUGS. 

Pertaining to reproduction or to birth or origin. Porphyric is a genetic disease.

genetic counseling
The genetic testing of couples who are planning to be parents in which their genomes are evaluated and they are given advice or information from a specialist regarding the likelihood of them having children with genetic diseases or defects, such as porphyria.

genome, human
All of the genetic information, the entire genetic complement, all of the DNA in a person. Humanity's DNA is the treasury of human inheritance. It is this extraordinary repository of genetic information which the Human Genome Project in the United States and comparable programs in other countries around the world that belong to HUGO (the HUman Genome Organisation) are designed to fully fathom.

GI endoscopy
A diagnostic procedure which involves the introduction of a flexible fibreoptic scope into the lower or upper gastrointestinal tract for diagnostic or therapeutic purposes.

D glucose, a monosaccharide (hexose), C6H12O6, found in certain foodstuffs, especially fruits and in the normal blood of all animals. It is the end product of carbohydrate metabolism and is the chief source of energy for living organisms, its utilisation being controlled by insulin. Excess glucose is converted to glycogen and stored in the liver and muscles for use as needed and, beyond that, is converted to fat and stored as adipose tissue. Glucose appears in the urine in diabetes mellitus. In patients with an acute hepatic porphyria, glucose is used as both intervention and preventive therapy. The use of glucose stops the overproduction of porphyrins in the heme pathway and liver.

glucose effect
The ability of the sugar glucose to block sugar metabolism by keeping the genes which make the enzymes involved in the early steps of sugar metabolism from making those enzymes.

Gunther's disease
And inherited porphyrin disorder linked to sores brought on by sunlight.  Also known as Congenital Erythropoietic Porphyria [CEP]. 

An abbreviation for Hereditary Coproporphyria, one of the four acute hepatic porphyrias.

haem [heme]
Compounds of iron complexed in a porphyrin (tetrapyrrole) ring that differ in side chain composition. Haems are the prosthetic groups of cytochromes and are found in most oxygen carrier proteins.

A medical doctor who specialises in the treatment of blood diseases.

Four subunit globular oxygen carrying protein of vertebrates and some invertebrates. There are two alpha and two beta chains (very similar to myoglobin) in adult humans, the haem moiety (an iron containing substituted porphyrin) is firmly held in a nonpolar crevice in each peptide chain.

Subjectively experienced sensation in the absence of an actual appropriate stimulus, but which is regarded by the individual as real.  Can be experienced as a part of mental changes in the acute hepatic porphyria patient.

A preparation of heme marketed for treatment and prevention of acute porphyrias in the United States.

The colored, nonprotein part of the hemoglobin molecule in the blood that contains iron and makes the blood red.

heme arginate
A preparation of heme marketed in Sweden for treatment and prevention of acute porphyrias in countries outside of the United States.  Heme arginate is only an investigational drug within the U.S.

heart rate
The number of beats per minute. Normal resting heart rates are variable with age, sex, size and overall cardiovascular condition. Heart rate can be determined by taking the pulse. Normal heart rate for an average sized adult is in the range of 60-85 beats/minute.

HEP - Abbreviation for Hepatoerythropoietic Porphyria.

hepatic - Having to do with the liver.

hepatitis - Inflammation of the liver.

A physician which specializes in the diagnosis and treatment of liver disease.

heptology - The study of the liver.

hepatotoxicity - Destructive to the liver.

Pesticides used to destroy unwanted vegetation, especially various types of weeds, grasses, and woody plants.  Some forms of herbicides are considered chemically toxic to porphyric patients and should not porphyrics should be exposed to such substance. In some cases it is thought to be a trigger of acute attacks of porphyria.

hereditary - Transferred via genes from parent to child.

hereditary coproporphyria
A group of metabolic disorders that result from a disturbance in porphyrin metabolism, causing increased formation and excretion of porphyrin or its precursors. Acute intermittent porphyria is a  inherited form that can result in abdominal pain, photosensitivity and neurological disturbances. The various forms can be differentiated measuring various blood prophyrins. The inheritance pattern is autosomal dominant.

Referring to structures or processes in different organisms that show a fundamental similiarity because of their having descended from a common disorder.

human gene therapy
Insertion of normal DNA directly into cells to correct a genetic defect.

Abnormal elevation of blood sodium concentration. Normal blood sodium should be 136 to 142 milliequivalents per litre. Excessively high blood sodium (155+meq/l) can manifest as a decreased
level of consciousness or a change in mentation. Such occurrs during acute attacks of porphyria especially here extreme vomiting has occurred.

Darkening of the skin. In some cutaneous forms of porphyria hyperpigmentation will occurr.

Persistently high arterial blood pressure. Hypertension may have no known cause (essential or idiopathic hypertension) or be associated with other primary diseases (secondary hypertension). This condition is considered a risk factor for the development of heart disease, peripheral vascular disease, stroke and kidney disease. Hypertension can be experience as a part of the onset of an acute attack of porphyria.

Abnormally low blood pressure, seen in shock but not necessarily indicative of it. One form is called labile hypotension and some times occurr during an acute attack.

ICU - Intensive Care Unit.

IgA - immunoglobulin A
Major class of immunoglobulin of external secretions in mammals, also found in serum and body fluids such as tears and saliva and in the respiratory, reproductive, urinary and gastrointestinal tracts. Immunoglobulin A protects the bodys mucosal surfaces from infection and in secretions, it is found as adimer (400 kD) joined by a short J chain and linked to a secretory portion or transport piece. In serum found as a monomer (170 kD). Immunoglobulin A is the main mechanism for providing local immunity against infections in the gut orrespiratory tract and may act by reducing the binding between an immunoglobulin A coated micro organism and a host epithelial cell.

IgE --immunoglobulin E
Class of immunoglobulin (188 kD) associated with immediate type hypersensitivity reactions and helminth infections. Present in very low amounts in serum and mostly bound to mast cells and basophils that have an immunoglobulin E specific Fc receptor (FceR). Immunoglobulin E has a high carbohydrate content and is also present in external secretions.

IgG --immunoglobulin G
The classical immunoglobulin class also called 7S IgG (150 kD). Composed of two identical light and two identical heavy chains, the constant region sequence of the heavy chains being of the type. The molecule can be described in another way as being composed of two Fab and an Fc fragment. he Fabs include the antigen combining sites, the Fc region consists of the remaining constant sequence domains of the heavy chains and contains cell binding and complement binding sites.  Gamma globin is such.

illness, acute
An illness with an abrupt onset and usually a short course.

IM   -   injections, intramuscular
Forceful administration into a muscle of liquid medication, nutrient, or other fluid through a hollow needle piercing the muscle and any tissue covering it.

inborn errors of metabolism
Term coined by A. Garrod in 1908 applying to heritable disorders of biochemistry. Examples include albinism, cystinuria (a cause of kidney stones) and phenylketonuria (pku) are a few of the hundreds of inborn errors of metabolism which also include the porphyrias.

The therapeutic introduction of a fluid other than blood, as saline solution, solution, into a vein.

infusion pumps
Fluid propulsion systems driven mechanically, electrically, or osmotically that are used to inject (or infuse) over time agents into a patient; used routinely in hospitals to maintain a patent intravenous line, to administer glucose and other drugs in either interevention or preventive porphyria treatment.

inherited disorder
Any disease or condition that is genetically determined.  It is also called a genetic disorder.

injections, subcutaneous
Forceful administration under the skin of liquid medication, nutrient, or other fluid through a hollow needle piercing the skin.

Persons admitted to health facilities which provide board and room, for the purpose of observation, care, diagnosis or treatment.

A chemical used to kill insects. Insecticides are a type of pesticide. Many pesticides are considered unsafe for porphyria patients and some may even trigger acute attacks.

Inability to sleep, abnormal wakefulness.   Insomnia or restlessness is often experienced during the onset of acute attacks of porphyria.

intensive care
Advanced and highly specialised care provided to medical or surgical patients whose conditions are life-threatening and require comprehensive care and constant monitoring. It is usually administered in specially equipped units of a health care facility.

Occurring at separated intervals, having periods of cessation of activity, such as acute intermittent porphyria.

Intermittent acute porphyria
Another name for AIP, acute intermittent porphyria, Waldenstroms porphyria or Swedish porphyria.

intravenous - Within a vein or veins.

intravenous fluid
The administration of a balanced electrolyte solution into the venous circulation. Often in an acute attack of porphyria potassium is added due to an electrolyte imbalance.

intravenous infusion
The giving of antibiotics, blood products, anti-cancer drugs or nutrients into a patients vein over a prolonged period of time.

Involving puncture or incision of the skin or insertion of an instrument or foreign material into the body, said of diagnostic techniques.

investigational new drug
Status given an experimental drug after the FDA approves an application for testing it in people. Currently Heme Arginate is an investigational new drug.

iron metabolism disorders
Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.

The state or quality of being irritable; quick excitability; petulance; fretfulness; as, irritability of temper. Often is a part of the mental change during the onset of an acute attack.

iv fluid
The administration of a balanced electrolyte (salt) solution into the venous circulation.

Yellowing of the skin (and whites of eyes) by bilirubin, a bile pigment. Frequently because of a liver problem.

jugular veins
Veins in the neck which drain the brain, face, and neck into the brachiocephalic or subclavian veins.

A protein that is a primary constituent of hair, nails and skin.

Two glands situated in the upper posterior abdominal cavity, one on either side of the vertebral column. The kidneys are shaped like two large beans, and act as a filter. The kidney function is to filter the blood and control the level of some chemicals in the blood such as hydrogen, sodium, potassium, and phosphate and they eliminate waste in the form of urine.

Facilities equipped to carry out investigative procedures.

A surgical procedure in which a tiny scope is inserted into the abdomen through a small incision. It is used for a variety of procedures and often to diagnose disease of the fallopian tubes and
pelvic cavity. Often porphyrica patients undergo a laparoscopy before their porphyria diagnosis.

Cells that help the body fight infections and other diseases. Also called white blood cells or WBC.

Abnormal decrease in the number of leukocytes in the blood (white blood cells that help to combat infection).

A term used to describe an abnormal elevation on the white blood cell count. Normal white blood cell counts are variable with age and sex. Normal adult range is 4, 500 to 11,000 cells per cubic millimetre of blood. Slightly higher counts are seen in children. Elevated counts can be seen in cases of inflammation and infection

levolose - A form of fructose.

A solid organ located in the right upper quadrant of the abdomen. The liver plays a major role in metabolism, digestion, detoxification and elimination of substances from the body.

liver function test
A test that measures the blood serum level of several enzymes produced by the liver. An elevated liver function test is a sign of possible liver damage. Examples include: prothrombin time, PTT, serum glutamic oxaloacetic transaminase, serum glutamic pyruvic transaminase, gamma glutamyl transpeptidase, alkaline phosphatase and serum albumin. Often abnormally elevated liver enzyme test results are indicative of hepatic porphyria.

liver scan
A way of visualising the liver by injecting into the bloodstream a trace dose of a radioactive substance which helps visualize the organ during x-ray.

low back pain - A continuous pain in the lower back or lumbar region.

low platelet count
An abnormally low platelet count. Normal platelet counts are 150,000-400,000 per cubic millimetre. Those with low platelet counts may exhibit haematuria, haematemesis, easy bruising, bleeding gums, melena (blood in stools), prolonged menses or nosebleeds. Spontaneous intracranial haemorrhage can occur with platelet counts of 10-15,000 (or less).

luteinizing hormone-releasing hormone
A hormone that controls sex hormones in men and women. Often used in female porphyria patients to stop the acute porphyria attacks due to the cyclic hormonal changes. 

Magnetic Resonance Imaging - [MRI]
A special imaging technique used to image internal stuctures of the body, particularly the soft tissues. An MRI image is often superior to a normal X-ray image. It uses the influence of a large magnet to polarize hydrogen atoms in the tissues and then monitors the summation of the spinning energies within living cells. Images are very clear and are particularly good for soft tissue, brain and spinal cord, joints and abdomen. These scans may be used for detecting some cancers or for following their progress.

maintenance therapy
Extended drug therapy, usually at a diminished dose, administered after a disease has been brought under control. Maintenance therapy is utilised when a complete cure is not possible, and a disease is likely to recur if therapy is halted.

maintenance treatment
Treatment given for a period of months or years to maintain remission. In porphyria this is often referred to as preventive treatment.

malabsorption - Impaired intestinal absorption of nutrients.

malabsorption syndromes
General term for syndromes of malnutrition due to failure of normal intestinal absorption of nutrients.

A yellowish, liquid organic phosphorous compound that is used as an insecticide. It has fairlylow toxicity to humans and other mammals, however porphyria patients should avoid exposure to the substance.

malnutrition - Faulty or inadequate nutrition. Under nourishment.

mania, symptoms
Symptoms of mania include *inappropriate elation. *inappropriate irritability. *severe insomnia. *grandiose notions. *increased talking speed and/or volume. *disconnected and racing thoughts. *increased sexual desire. *markedly increased energy. *poor judgment. *inappropriate social behavior. Mania can often be a part of the mental changes experienced by acute  porphyria patients.

Being the part or aspect of a phenomenon that is directly observable: concretely expressed in behaviour.

mapping - Refers to gene mapping and a linkage map.

mapping, gene
Charting the positions of genes on chromosome and learning the distance, in linkage units or physical units, between genes. 

An identifiable physical location on a chromosome (for example, restriction enzyme cuttingsite, gene) whose inheritance can bemonitored. Markers can beexpressed regions of DNA (genes) or some segment of DNA with no knowncoding function but whose pattern of inheritance can be determined.  As more mapping takes place as DNA is charted, more subtypes of different porphyrias are being found.

marker chromosome
An abnormal chromosome that is distinctive in appearance but not fully identified. For example, the fragile x chromosome was once called the marker x.

marker gene
Gene that confers some readily detectable phenotype on cells carrying the gene, either in culture or in transgenic or chimeric organisms. Gene could be an enzymic reporter gene, a selectable marker conferring antibiotic resistance or a cell membrane protein with a characteristic epitope.

The impregnation of a patient with a medicine. The administration of remedies or a medicament.

A scientifically-based discipline dedicated to the prevention and treatment of disease and injury. Also a  compound used to treat disease, injury or pain.

medicine, herbal
Use of plants or herbs to treat diseases or to alleviate pain.

medicine, oriental traditional
A system of traditional medicine which is based on the customs, beliefs and practices of the oriental people.

medicine, traditional
Systems of medicine based on cultural beliefs and practices handed down from generation to generation. The concept includes mystical and magical rituals, herbal therapy, and other treatments which may not be explained by modern medicine.

Mendelian inheritance
Inheritance of characters according to the classical laws formulated by Gregor Mendel, which give the classic ratios of segregation in the F2 generation. In sexually reproducing organisms, any process of heredity explicable in terms of chromosomal segregation, independent assortment and homologous exchange.

Cessation of menstruation in the human female, occurring usually around the age of 50.

Referring  to the mind, psychic, or that which is psychological.

mental disorders
Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behaviour producing either distress or impairment of function.

mental state
A finding on physical examination that may refer to any number of abnormal changes in baseline mental functioning. Milder examples include mood changes, irritability, personality changes, depression or blunted affect. Advanced changes include confusion, lethargy, sleepiness, hallucinations, unresponsiveness and coma.

A carbamate with hypnotic, sedative, and some muscle relaxant properties, although in therapeutic doses reduction of anxiety rather than a direct effect may be responsible for muscle relaxation.Meprobamate has been reported to have anticonvulsant actions against petit mal seizures, but not againstgrand mal seizures (which may be exacerbated). It is used in the treatment of anxiety disorders, and also for the short-term management of insomnia but has largely been susperseded by the benzodiazepines.  Considered UNSAFE for acute porphyria patients.

metabolic disease
Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (metabolism, inborn errors) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. The hepatic porphyrias are an example of a metabolic disease.

The sum of all the physical and chemical processes by which living organised substance is produced and maintained (anabolism) and also the transformation by which energy is made available for the uses of the organism (catabolism).

migraine headache
The most common type of vascular headache involving (it is thought). Abnormal sensitivity of blood vessels (arteries) in the brain to various triggers resulting in rapid changes in the artery size due to spasm (constriction). Other arteries in the brain and scalp then open (dilate), and throbbing pain is perceived in the head. The tendency to migraine is inherited and appears to involve serotonin, a chemical in the brain involved in the transmission of nerve impulses that trigger the release of substances in the blood vessels that in turn cause the pain of the migraine. These nerve impulses cause the flashing lights and other sensory phenomena known as an aura that may accompany a migraine. Not all severe headaches are migraines and not all migraines are severe. Migraines are often associated with porphyria attacks.

A small intracellular organelle which is responsible for energy production and cellular respiration.

mitochondrial disease
An illnesse, frequently neurological, which can be ascribed to defects in mitochondrial function. If the defect is in the mitochondrial rather than the nuclear genome unusual patterns of inheritance can be observed.

molecular biology
The study of the biochemistry of cells, it is closely linked to cell biology, in particular the biochemistry of DNA and cogeners.

mortality rate
The proportion of deaths in a population or to a specific number of the population.

muscle contraction
A process leading to shortening and/or development of tension in muscle tissue. Muscle contraction occurs by a sliding filament mechanism whereby actin filaments slide inward among the myosin filaments.

muscle fatigue
A state arrived at through prolonged and strong contraction of a muscle. Studies in athletes during prolonged submaximal exercise have shown that muscle fatigue increases in almost direct proportion to the rate of muscle glycogen depletion. Muscle fatigue in short-term maximal exercise is associated with oxygen lack and an increased level of blood and muscle lactic acid, and an accompanying increase in hydrogen-ion concentration in the exercised muscle.

muscle fibers
Any of the cells of skeletal or cardiac muscle tissue. Skeletal muscle fibers are cylindrical multinucleate cells containing contracting myofibrils, across which run transverse striations, enclosed in a sarcolemma. Cardiac muscle fibers contain one or sometimes two nuclei and myofibrils and are separated from one another by an intercalated disk; although striated, cardiac fibers branch to form an interlacing network.

muscle weakness
A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterised as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases such as porphyria.

muscular atrophy
Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.

myelin sheath
An insulating layer surrounding vertebrate peripheral neurons, that dramatically increases the speed of conduction. It is formed by specialised Schwann cells, that can wrap around
neurons up to 50 times. The exposed areas are called nodes of Ranvier: they contain very high densities of sodium channels and action potentials jump from one node to the next, without involving the intermediate axon, a process known as saltatory conduction.

An alkaloid antagonist of morphine and of the opiate peptides.

2-(6-methoxy-2-naphthyl)propionic acid. An anti-inflammatory agent with analgesic and antipyretic properties. Both the acid and its sodium salt are used in the treatment of rheumatoid arthritis and other rheumatic or musculoskeletal disorders, dysmenorrhoea, and acute gout. In it's pharmacological action it is a non-steroidal anti-inflammatory agents, cyclooxygenase inhibitors, and gout suppressants.

Pertaining to or producing narcosis. <pharmacology> An agent that produces insensibility or stupor, applied especially to the opioids, i.e. To any natural or synthetic drug that has morphine like actions.

narcotic analgesic agent
Medications that relieve pain but have addictive potential if used regularly. Examples include: meperidine, morphine, propoxyphene, codeine, hydrocodone, oxycodone, hydromorphone, nalbuphine, butorphanol d heroin.

narcotic analgesics
Medications that relieve pain but have addictive potential if used regularly. Examples include: meperidine [demerol] , morphine, propoxyphene, codeine, hydrocodone,[vicodin] oxycodone, hydromorphone, nalbuphine, butorphanol and heroin.

National Institutes of Health [ NIH]
A nonregulatory U.S. Federal agency which has oversight of research activities that the agency funds.

National Library of Medicine  [NLM]
An agency of the national institutes of health concerned with overall planning, promoting, and administering programs pertaining to various aspects of documentation and library services in the field of medicine.

An unpleasant sensation, vaguely referred to the epigastrium and abdomen and often culminating in vomiting.  Often a symptom of porphyria at the onset of an acute attack.

Not affirming the presence of the organism or condition in question (a negative diagnosis).

negative, false
A result that appears negative but fails to reveal a situation.

A treatise on, or the science which treats of, the kidneys, and their structure and functions. Kidneys also can be affected by porphyria as well as the liver.  See also: Renal.

One of the whitish and elastic bundles of fibres, with the accompanying tissues, which transmit nervous impulses between nerve centers and various parts of the animal body. An ordinary nerve is made up of several bundles of nerve fibres, each bundle inclosed in a special sheath (the perineurium) and all bound together in a connective tissue sheath and framework (the epineurium) containing blood vessels and lymphatics.  Also a sinew or a tendon.

nervous system
The entire integrated system of nerve tissue in the body: the brain, brainstem, spinal cord, nerves and ganglia.

Inflammation of a nerve, a condition attended by pain and tenderness over the nerves, anaesthesia and paraesthesias, paralysis, wasting and disappearance of the reflexes. In practice, the term is also used to denote noninflammatory lesions of the peripheral nervous system. If the involvement is in one nerve it is called mononeuritis, in several nerves, mononeuritis multiplex, if diffuse and bilateral, polyneuritis.

neurodegenerative diseases
A varied assortment of central nervous system disorders characterised by gradual and progressive loss of neural tissue.

A physician who diagnoses and treats disorders of thenervous system.

The Brand name for the generic Gabapentin, an anticonvulsant and antiepileptic. Often used for the treatment of the seizures, tremors, and peripheral neuropathy of acute hepatic porphyria patients.

The branch of science which treats of the nervous system.

neuromuscular - Pertaining to muscles and nerves.

neuropathic pain
Pain that results from a disturbance of function or pathologic change in a nerve, in one nerve mononeuropathy, in several nerves, mononeuropathy multiplex, if diffuse and bilateral, polyneuropathy.

A general term denoting functional disturbances and/or pathological changes in the peripheral nervous system. If the involvement is in one nerve it is called mononeuropathy, in several nerves, ononeuropathy multiplex, if diffuse and bilateral, polyneuropathy. The aetiology may be known for example arsenical neuropathy, diabetic neuropathy, ischaemic neuropathy, traumatic neuropathy) or unknown. Encephalopathy and myelopathy are corresponding terms relating to involvement of the brain and spinal cord, respectively. The term is also used to designate noninflammatory lesions in the peripheral nervous system, in contrast to inflammatory lesions (neuritis).

neutrophil - A grainlike circulating white blood cell.

A urinary anti-infective agent effective against most gram-positive and gram-negative organisms. Although sulfonamides and antibiotics are usually the agents of choice for urinary tract infections, nitrofurantoin is widely used for prophylaxis and long-term suppression.

nonsteroidal anti-inflammatory  [NSAID]
A large group of anti-inflammatory agents that work by inhibiting the production of prostaglandins. Examples include: ibuprofen, ketoprofen, piroxicam, naproxen, sulindac, aspirin, choline subsalicylate, diflunisal, fenoprofen, indomethacin, meclofenamate, salsalate, tolmetin and magnesium salicylate.

nuclear magnetic resonance
Spectroscopic method of measuring the magnetic moment of atomic nuclei in a covalent bond. Clinical application is in biochemical, metabolic, and physiologic studies of living tissue. It includes proton and electron spin-echo and spin-relaxation times.

nutritional and metabolic diseases
A collective term for nutritional disorders (result of poor assimilation or utilization of food) and metabolic disorders (result of poor metabolism or inherited enzyme abnormality).

nutritional support
The administration of nutrients for assimilation and utilization by a patient by means other than normal eating. It does not include fluid therapy which normalises body fluids to restore water-electrolyte balance.

nutritive value
An indication of the contribution of a food to the nutrient content of the diet. This value depends on the quantity of a food which is digested and absorbed and the amounts of the essential nutrients (protein, fat, carbohydrate, minerals, vitamins) which it contains. This value can be affected by soil and growing conditions, handling and storage, and processing. In the acute porphyrias it is important to know the nutritive values for carbohydrate and proteins as well as caloric value.

Any foods grown without the use of chemical fertilisers or pesticides, in soil made rich by composting and mulching. Pertaining to carbon-based compounds produced by living plants, animals or by synthetic processes.

The administration of an excessive dose. The condition resulting from an excessive dose.

Oxidizing agents or electron-accepting molecules in chemical reactions in which electrons are transferred from one molecule to another (oxidation-reduction). In vivo, it appears that phagocyte-generated oxidants function as tumour promoters or cocarcinogens rather than as complete carcinogens perhaps because of the high levels of endogenous antioxidant defenses. It is also thought that oxidative damage in joints may trigger the autoimmune response that characterises the persistence of the rheumatoid disease process.

An unpleasant sensory and emotional experience associated with actual or potential tissue damage or described in terms of such damage.

pain, back
Symptoms in the low back can relate to the bony lumbar spine, discs between the vertebrae, ligaments around the spine and discs, spinal cord and nerves, muscles of the low back, internal organs of the pelvis and abdomen, and the skin covering the lumbar area. 

pain, chest
Chest pain has many cause. One celebrated cause is angina which results from inadequate oxygen supplyto the heart muscle due to coronary artery disease or spasm of the coronary arteries. Treatment of angina includes rest, medication, angioplasty, and/or coronary artery bypass surgery. Often this chest pains mimics the upper right quadrant pain associated with acute hepatic porphyria.

pain measurement
Scales, questionnaires, tests, and other methods used to assess pain severity and duration in patients or experimental animals to aid in diagnosis, therapy, and physiological studies.

preventive  therapy
Treatment to relieve symptoms of the disease but not to cure it. Frequently takes the form of making the patient more comfortable through pain management. Sometimes is referred to as pallative treatment.

To beat rapidly and more strongly than usual; to throb; to bound with emotion or exertion; to pulsate violently; to flutter; said specifically of the heart when its action is abnormal, as from excitement. In acute hepatic porphyrias a rapid heart beat [tachycardia] is often associated with an attack.

parenteral nutrition
A method of delivering nutrition or other substances directly into a vein. Fluids given usually include salt (saline), glucose, amino acids, electrolytes, vitamins and medications. In severe acute attacks of hepatic porphyria parenteral nutrition is used when vomiting or inability to consume carbohydrates takes place.

paresis - Another word for paralysis.

Any feelings that others cannot sense, as numbness, tingling, prickle feelings. etc.

patient advocacy
Promotion and protection of the rights of patients, frequently through a legal process.

PCR  - polymerase chain reaction
The first practical system for in vitro amplification of DNA and as such one of the most important recent developments in molecular biology. Two synthetic oligonucleotide primers, which are  omplementary to two regions of the target DNA (one for each strand) to be amplified, are added to the target DNA (that need not be pure), in the presence of excess deoxynucleotides and Taq polymerase, a heat stable DNA polymerase. In a series (typically 30) of temperature cycles, the target DNA is repeatedly denatured (around 90_C), annealed to the primers (typically at 50-60_C) and a daughter strand extended from the primers (72_C). As the daughter strands themselves act as templates for subsequent cycles, DNA fragments matching both primers are amplified exponentially, rather than linearly. The original DNA need thus be neither pure nor abundant and the polymerase chain reaction has accordingly become widely used not only in research, but in clinical diagnostics and forensic science.

PCT - Abbreviation for porphyria cutaneous tarda.

PDR - Abbreviation for Physician's Desk Reference.

peripherally inserted central catheter [Temporary PICC]
A catheter inserted into an arm vein and used for periods of up to three months. This catheter does not need to be surgically implanted and can be inserted at home by a trained nurse.

peripheral nervous system
One of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, bloodvessels and glands.

peripheral neuropathy
Injury to the nerves that supply sensation to the arms and legs.

Abbreviation for Porphyria Educational Services.  A non-profit charitable education organization providing educational materials and referrals for porphyria patients.

Chemicals used to destroy pests of any sort. The concept includes fungicides (fungicides, industrial), insecticide, rodenticides, etc. Poprhyria patients should avoid exposure to all pesticides.  Some pesticides are possible triggers of acute attacks.

pharmaceutical - Pertaining to pharmacy or to drugs, such as a medicinal drug.

phase I clinical trial
The earliest stage clinical trial for studying an experimental drug in humans. Phase I trials are generally comparatively small and are used to determine toxicity and maximum dose. They provide an initial evaluation of a drug's safety and pharmacokinetics-how the drug is absorbed, what tissues it reaches and how long it takes to leave the body. Such studies also usually test various doses of the drug (dose-ranging) to obtain an indication of the appropriate dose to use in later studies.

phase II clinical trial
Usually focus on the activity of the new product as a single agent in a noncomparative, open study.

phase III clinical trial
An advanced stage clinical trial that should conclusively show how well a drug works as compared to other treatments. Phase III trials are large, frequently multi-institution tests. They generally compare the relative value of the new drug compared with the current standard treatment and measure whether a new drug extends survival or otherwise improves the health of patients on treatment (clinical improvement) rather than just provide surrogate marker data. These studies generally last longer and are larger than phase II trials.

A barbiturate used as a sedative and an anticonvulsant. It was used as an anti-anxiety agent but has been supplanted by benzodiazepines for that purpose. Phemobarbital as well as all barbiturates
are most UNSAFE for porphyria patients.

A group of tranquilising medications with antipsychotic action, thought to act by blocking dopaminergic transmission in the brain. They are used to treat mental, nervous and emotional disorders. Examples of phenothiazines  include: chlorpromazine, fluphenazine, mesoridazine, perphenazine, prochlorperazine,promazine, thioridazine, trifluoperazine, thiopropazate and triflupromazine. This classification of drugs are considered safe for treatment of acute hepatic porphyria patients.

An entry into a vein to release blood.  It is done to treat an excess of red blood cells and is done periodically.  One form of treatment for PCT [porphyria cutaneous tarda].

photosensitive rash
A rash that occurs from the use of a particular drug when exposed to sunlight. <pharmacology> Medications known to produce a photosensitive skin reaction include: captopril, chlordiazepoxide, furosemide, griseofulvin, oral contraceptives, phenothiazines, sulphonamides, tetracycline, demeclocycline and thiazide diuretics.  Most of these pharmaceuticals are considered UNSAFE for use with porphyria patients.

An abnormal cutaneous response involving the interaction between photosensitising substances and sunlight or filtered or artificial light at wavelengths of 280-400 mm. There are two main
types: photoallergy and photoxicity. Many porphyria patients also have photosensitivity.

photosensitivity disorders
Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.

PICC line
A catheter inserted into an arm vein and used for periods  up to four years. This catheter is implanted usually by an interventional radiology using a scope to trace the line placement through the access vein and into the chest.

The waterym colorless fluid in lymph and blood in which the white and red blood cells and platelets are hung. It has no cells and is made up of water, elctrolytes, proteins, sugar [glucose], fats, bile coloring [bilirubin], and gases.

A discoid cell (3m diameter) found in large numbers in blood, important for blood coagulation and for haemostasis by repairing breaches (small breaks) in the walls of blood vessels.

plumoporphyria - Another name for ALA-D porphyria.

A cyclic tetrapyrrole in which the four pyrrole groups are linked by their alpha-carbon atoms via methene (-CH=) bridges, porphin is the partial compund of porphyrins.

porphobilinogen [PBG]
Chemical name: 1H-Pyrrole-3-propanoic acid, 5-(aminomethyl)-4-(carboxymethyl)-

A combination of uroporphyrinogen I synthase and uroporphyrinogen isomerase which catalyzes the formation of uroporphyrinogen iii from porphobilinogen; minor descriptor (75-84); on-line
and index medicus search ammonia-lyases (75-84)

porphobilinogen oxygenase - Porphobilinogen is converted to 5-oxo-porphobilinogen

porphobilinogen synthase
An enzyme that catalyzes the formation of porphobilinogen from two molecules of 5-aminolevulinic acid. The chemical name is  5-Aminolevulinate hydro-lyase (adding 5-aminolevulinate and cyclizing)

A pathological state in man and some lower animals that is often due to genetic factors, is characterised byabnormalities of porphyrin metabolism and results in the excretion of large quantities of porphyrins in the urine and in extreme sensitivity to light.

porphyria, acute intermittent [AIP]
A form of hepatic porphyria (porphyria, hepatic) characterised by periodic attacks of gastrointestinal disturbances, abdominal colic, paralyses, and psychiatric disorders. The onset of this condition is usually in the third or fourth decade of life. Other names for AIP have been acute hepatic porphyria, Waldenstrom's porphyria, Pyrrolean porphyria, and Swedish porphyria.

porphyria cutanea tarda
A form of hepatic porphyria (porphyria, hepatic) characterised by photosensitivity resulting in bullae that rupture easily to form shallow ulcers. This condition occurs in two forms: a sporadic, nonfamilial form that begins in middle age and has normal amounts of uroporphyrinogen decarboxylase with diminished activity in the liver; and a familial form in which there is an autosomal dominant inherited deficiency of uroporphyrinogen decarboxylase in the liver and red blood cells.

porphyria, erythrohepatic 
A form of porphyria characterised by a wide range of photocutaneous changes, liver disease, and an excess of protoporphyrin.

porphyria, erythropoietic
Autosomal recessive porphyria characterised by splenomegaly, photosensitivity, haemolytic anaemia, and the appearance of red urine in early infancy. This condition results from increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow normoblasts.

porphyria, hepatic
Porphyria in which the liver is the site where excess formation of porphyrin or its precursors is found. Porphyria, acute intermittent, variegate porphyria and heriditary coproporphyria along with porphyria cutanea tarda are types of hepatic porphyria.

Porphyrins are pigments found in both animal and plant life. They are all chelates with metals (Fe, Mg, Co, Zn, Cu, Ni) and constituents of haemoglobin, chlorophyll, cytochromes. Increased levels of coproporphyrins can indicate congenital erythropoietic porphyria or sideroblastic anaemia. Increased protoporphyrins may be seen in infection, thalassaemia, sideroblastic anaemia, iron deficient anaemia, increased erythropoiesis and lead poisoning. Increased uroporphyrins may indicate congenital erythropoietic porphyria or erythropoietic protoporphyria.

porphyrin cytochrome c peroxidase
From yeast; haem group of cytochrome c peroxidase (EC replaced by protoporphyrin ix.

porphyrinogen carboxy-lyase - Consider uroporphyrinogen decarboxylase EC 4.1.1.-

Colourless reduced precursors of porphyrins in which the pyrrole rings are linked by methylene (-ch2-) bridges.

A group of compounds containing the porphin structure, four pyrrole rings connected by methine bridges in a cyclic configuration to which a variety of side chains are attached. The nature of the side chain is indicated by a prefix, as uroporphyrin, haematoporphyrin, etc. The porphyrins, in combination with iron, form the haem component in biologically significant compounds such as haemoglobin and myoglobin.

The principle of succession in royal families, especially among the Eastern Roman emperors, by which a younger son, if born after the accession of his father to the throne, was preferred to an elder son who was not so born.

Having a value greater than zero, indicating existence or presence of a condition, organism, etc

positive, false
A result that is erroneously positive when a situation is normal. An example of a false positive: a particular test designed to detect cancer of the toenail is positive but the person does not have toenail cancer.

potassium chloride
Potassium chloride. A white crystal or crystalline powder used as an electrolyte replenisher, inthe treatment of hypokalaemia, in association with lost of electrolytes from repeated vomiting during
acupte hepatic porphyria attacks.

precipitating factors
Factors associated with the definitive onset of a disease, illness, accident, behavioural response, or course of action. Usually one factor is more important or more obviously recognizable than others, if several are involved, and one may often be regarded as "necessary". Examples include exposure to specific disease; amount or level of an infectious organism, drug, or noxious agent, etc.  Often
referred to in porphyria attacks as "triggers".

Preliminary medication, particularly internal medication to produce narcosis prior to inhalation anaesthesia.

premenstrual - Occurring before menstruation.

prescription drug
A drug requiring a prescription, a physician's order. By comparison with an over-the-counter drug.

Capable of being prevented or hindered; as, preventable diseases.

primary health care [aka primary care]
Care which provides integrated, accessible health care services by clinicians who are accountable for addressing a large majority of personal health care needs, developing a sustained partnership with patients, and practicing in the context of family and community.

principal investigator
The head researcher responsi for organising and overseeing a clinical trial  An example would Dr. Karl E. Anderson, heading the heme arginate studies.

professional-patient relations
Interactions between health personnel and patients.

prophylaxis - The prevention of disease, preventive treatment.

A narcotic analgesic structurally related to methadone. Only the dextro-isomer has an analgesic effect; the levo-isomer appears to exert an antitussive effect. As a drug it is used as an: analgesics, opioid, antitussive agents, narcotics. Widely used and considered safe for pain control in porphyria.

Potent adrenergic antagonist acting at _ 1 and _ 2 adrenergic receptors. Possibly the most prescribed pharmaceutical for a wide variety of symptoms in acute porphyria.

A formula, a treatment recipe. Amethodical approach to treatment based upon the current understanding of the disease process.

Porphyrin ring structure lacking metal ions. The most abundant is protoporphyrin IX, the immediate precursor of heme.

Porphyrins with four methyl, two vinyl, and two propionic acid side chains attached to the pyrrole rings. Protoporphyrin ix occurs in haemoglobin, myoglobin, and most of the cytochromes.

A physician who specialises in the diagnosis and treatment of behavioural abnormalities and mental diseases.

Pertaining to psychology. That al illness may be "all in your head". Imagined.

One who is versed in, devoted to, psychology. Often a medical therapist, counselor.

The rhythmic beating or vibrating movement of the heart.  The heart beat.

Another name for AIP porphyria.

An abbreviation used on  a prescription.   qd means  use one a day.

Pertaining to or characterised by, boasting and pretension; used by quacks; pretending to cure diseases; as, a quack medicine; a quack doctor.

radioactive iodine - Iodine that gives off radiation.

A medically qualified doctor who specialises in the use of imaging techniques (X-rays, Ultrasound, CT, MR, fine needle biopsy etc) for diagnosis (diagnostic radiologist) or one who specialises in the use of imaging techniques in assisting treatment such as a liver biopsy or when an  interventional radiologist places a port or PICC cather within the veins of a porphyria patient.

The study of X-rays in the diagnosis of a disease. Also a hospital department where xrays and CT scans are undertaken.

radiopaque contrast
A radiopaque substance (for example metal) will be highlighted (appear white) on a plain X-ray. The use of iodine containing radiopaque contrast dyes allow enhancement of the anatomy demonstrable with conventional X-ray. Porphyria patients need to tell the radiologist that they have porphyria as some radiopaque contrast materials are not considered safe for porphyria patients.

rate, basal metabolic
A measure of the rate of metabolism. For example, someone with an overly active thyroid will have an elevated basal metabolic rate.

RBC --red blood cell
Cell specialised for oxygen transport, having a high concentration of haemoglobin in the cytoplasm (and little else).

red blood cell
Cell specialised for oxygen transport, having a high concentration of haemoglobin in the cytoplasm (and little else).

red blood cell count
A normal value is 4.6-6.2 million RBC's per cubic millimetre of blood. This number can increase in cases of dehydration (fluid loss) or severe lung disease. Interestingly, red blood cell counts are much higher in those who live at high altitude, because of the increased demand for oxygen carrying capacity.

red blood cell indices
Laboratory measurements of red blood cell volume, size and haemoglobin concentration. These values are used to point to the specific cause for anaemia (iron deficiency, B12 deficiency, etc.)

A reflected action or movement, the sum total of any particular involuntary activity. Often in peripheral neuropathy associated with porphyria, the loss of tenden reflexes may occur.

renal - Pertaining to the kidney, nephric.

Term used by physiologists to describe the process of breathing.

respiratory rate
The number of breaths per minute (or, more formally, the number of movements indicative of inspiration and expiration per unit time). In practice, the respiratory rate is usually determined by counting the number of times the chest rises (or falls) per minute. By whatever means, the aim is to determine if the respirations are normal, abnormally fast (tachypnea), abnormally slow (technically termed bradypnea), or nonexistent (apnea).

respiratory paralysis
A constriction of the chest and throat making normal breathing difficult.  Occurs in some severe actute attacks of porphyria.  Can lead to death, and is the most single mortality factor in porphyria.

risk factors
An aspect of personal behaviour or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.

Substances used to destroy or inhibit the action of rats, mice, or other rodents.  Rodenticides involving a gas or spray should be avoided by persons with porphyria.

A type of imaging, for example ultrasound, MR, CT, scintigram.

A barbiturate that is used as a sedative. Secobarbital is reported to have no anti-anxiety activity. As with all barbiturates secobarbital is consider an UNSAFE DRUG for people with porphyria.

An enzyme produced by the liver. Elevated levels of SGOT in the blood indicate a liver problem. Quite often the SGOT will be elevated in hepatic porphyria patients during an attack.

An enzyme produced by the liver. Elevated levels of SGPT in the blood indicate a liver problem.

sick building syndrome
A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic), allergic rhinitis (rhinitis, allergic, perennial), asthma, infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints.

side effects
Problems that occur when treatment affects healthy cells.

skin abnormalities - Congenital structural abnormalities of the skin.

skin diseases, genetic
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. The cutaneous forms of porphyria are considered genetic skin diseases.

skin diseases, metabolic
Diseases of the skin associated with underlying metabolic disorders.   The cutaneous forms of porphyria are considered metabolic skin diseases.

subcutaneous injection
The delivery of a medication into the subcutaneous tissues via injection.

An anti-infective agent that is used topically to treat skin infections and orally for urinary tract infections.  It is considered an UNSAFE DRUG for person with porphyria.

A sulfonamide antimicrobial used for urinary tract infections. It is considered an UNSAFE DRUG for persons wiht porphyria.

A sulfanilamide that is commonly used in combination with pyrimethamine to treat toxoplasmosis in patients with acquired immunodeficiency syndrome and in newborns with congenital
infections. It is considered an UNSAFE DRUG for persons with porphyria.

sulfates - Inorganic salts of sulfuric acid.

Pharmacological action: anti-infective drug. This drug is considered an UNSAFE DRUG for persons with porphyria.

sulpha drug
A group of drugs used to treat infections. They include: sulphamethoxazole, Bactrim, sulphasalazine and sulphisoxazole. These agents areconsidered as an UNSAFE DRUG for persons with porphyria.

A sulpha drug used in combination with pyrimethamine for treating toxoplasmosis. Considered to be an UNSAFE DRUG for persons with porphyria.

A sulfanilamide that is used as a drug as an anti-infective agent. Benzenesulfonamide. Considered  an UNSAFE DRUG for persons with porphyria.

A long acting sulfonamide that is used, usually in combination with other drugs, for respiratory, urinary tract, and malarial infections. Considered an UNSAFE DRUG for persons with porphyria.

A sulfanilamide antimicrobial agent that is used to treat enteric infections. Considered an UNSAFE DRUG for person with porphyria.

Benzenesulfonamide. Long-acting plasma-bound sulfonamide used for respiratory and urinary tract infections and also for malaria. Considered an UNSAFE DRUG for persons with porphyria.

A sulfanilamide drug that is used as an antibacterial agent.  Sulfamerazine is considered an UNSAFE DRUG for persons with porphyria.

Sulfanilamide is a drug which is used as an anti-infective agent.  Is is considered an UNSAFE DRUG for persons with porphyria.

A sulfathiazole is a drug that is used as an antibacterial agent. It is considered an UNSAFE DRUG for persons with porphyria.

A bacteriostatic antibacterial agent that interferes with folic acid synthesis in susceptible bacteria. Its broad spectrum of activity has been limited by the development of resistance, but has been used as an anti-infective drug. It is considered an UNSAFE DRUG for persons with porphyria.

A sulfanilamide antibacterial agent. It is considered an UNSAFE DRUG for persons with porphyria.

Sulfamonomethoxine is a long acting sulfonamide antibacterial drug. It is considered an UNSAFE DRUG for persons with porphyria.

A sulfanilamide antibacterial agent, it is often used as an anti-infective drug.  It is considered an UNSAFE DRUG for persons with porphyria.

I is a drug used as an anti-infective agent.   It is considered an UNSAFE DRUG for persons with porphyria.

sulfanilic acids
Aminobenzenesulfonic acids. Organic acids that are used in the manufacture of dyes and organic chemicals and as reagents. Such dyes and chemicals containing the substance should be
avoided by persons with porphyria.

A sulfonilamide anti-infective drug.  It is considered an UNSAFE DRUG for persons with porphyria. 

An antibacterial, potentially toxic, used to treat certain skin diseases. Used should be avoided by persons with porphyria.

Sulfanilamide is an  antiprotozoal drug  used in the treatment of infectious enteritis. It is considered an UNSAFE DRUG for persons with porphyria.

A drug that is used in the management of inflammatory bowel diseases, its activity is generally considered to lie in its metabolic breakdown product, 5-aminosalicylic acid (mesalazine) released in the colon. It is also used in the treatment of severe or progressive rheumatoid arthritis not responding to analgesics or anti-inflammatory drugs.  It is considered an UNSAFE DRUG for persons with porphyria.

syringes - Instruments used for injecting or withdrawing fluids.

Indicating the maximum arterial pressure during contraction of the left ventricle of the heart.

systolic blood pressure
The pressure exerted on the walls of the arteries during the contraction phase of the heart. Considered abnormally elevated if consistently over 150 mmHg. Systolic blood pressure varies
with age, sex, size and relative condition. 

The excessive rapidity in the action of the heart, the term is usually applied to a heart rate above 100 per minute and may be qualified as atrial, junctional (nodal) or ventricular and as paroxysmal.

Delivery of health services via remote telecommunications. This includes interactive consultative and diagnostic services.

A fibrous, strong, connective tissue that connects muscle to bone. The laceration of a tendon can result in the inability to flex or extend at a joint.

Potent local anaesthetic.  Persons with porphyria should avoid this drug.

Compounds that are used to treat specific diseases or medical conditions.

The recording of internal body images at a predetermined plane by means of the tomograph, also called body section roentgenography.

Pertaining to, due to or of the nature of a poison or toxin, manifesting the symptoms of severe infection.

toxicity test
Controlled laboratory test to determine the toxicity of a chemical to an organism in terms of specific chemical concentrations.

toxicity tests
Tests that determine the toxicity of a substance. These include tests of clinical drugs, foods, environmental pollutants, etc.

transcutaneous electric nerve stimulation [TENS]
Electrical stimulation of nerves and/or muscles to relieve pain; it is used less frequently to produce anaesthesia. The optimal placements of electrodes or "trigger points" may correspond with acupuncture analgesia points. Tens is sometimes referred to as acupuncture-like when using a low frequency stimulus.

Things that cause an acute attack of porphyria, such as drugs, hormones, alcohol, low carbohydrate intake, low caloric intake or various environmental chemical toxins.

Waldenstrom's I
An early name for AIP acute intermittent porphyria name for the Swedeish researcher Waldenstrom.

Watson-Schwartz Test
A PBG test most commonly used in hospital laboratories in the diagnosis of porphyria.

WBC --white blood cell
White corpuscles in the blood. They are spherical, colourless and nucleated masses involved with host defenses. Normal white blood cell counts are variable with age and sex. Normal adult range is 4, 500 to11,000 cells per cubic millimetre of blood. Slightly higher counts are seen in children. Elevated counts can be seen in cases of inflammation and infection.

Wanting physical strength. Specifically: Deficient in strength of body; feeble; infirm; sickly; debilitated; enfeebled; exhausted.

white blood cell
White corpuscles in the blood. They are spherical, colourless and nucleated masses involved with host defenses. Normal white blood cell counts are variable with age and sex. Normal adult range is 4, 500 to11,000 cells per cubic millimetre of blood. Slightly higher counts are seen in children. Elevated counts can be seen in cases of inflammation and infection.

white blood cell count
A laboratory test which measures the number of white blood cells per cubic millimetre of blood. Normal white blood cell counts are variable with age and sex. Normal adult range is 4, 500 to 11,000 cells per cubic millimetre of blood. Slightly higher counts are seen in children. Elevated counts can be seen in cases of inflammation and infection.

white blood cell differential
The white blood cell differential is a percentage of each type of white blood cell based on a count of 100 white cells. A change in the white blood cell type (to neutrophils or bands) can indicate a bacterial infection.Neutrophils, bands, lymphocytes, monocytes, basophils and eosinophils are all included.

A type of irradiation used for imaging purposes that uses energy beams of very short wavelengths (0.1 to 1000 angstroms) that can penetrate most substances except heavy metals. This is the commonest form of imaging technique used in clinical practice everywhere in the world with the image captured on photographic film.

yeast infection -- candidiasis
Infection with a fungus of the genus Candida. It is usually a superficial infection of the moist cutaneous areas of the body and is generally causedby Candida albicans, it most commonly involves the skin (dermatocandidiasis), oral mucousmembranes (oral candidiasis), respiratory tract (bronchocandidiasis) and vagina (vaginal candidiasis or thrush). Rarely there is a systemic infection or endocarditis. Yeast infections are quite common among persons with acute hepatic porphyria.

zygotic effect gene
A gene whose phenotype is dependent on the genotype of the zygote, rather than the genotype of the mother.


© Porphyria Educational Services, 1999, 2000       -      edited with Netscape Composer