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TESTING FOR PORPHYRIA



Delta-ALA Porphyrin Urine test.

        The Delta-ALA urine  test is a test that measures the
amount of delta-ALA in urine. It is one of the mmore basic porphyria tests.

        Delta-ALA means delta-aminolevulinic acid.  It is a basic component
of the heme biopathway.

        A 24-hour urine sample collection of urine is needed.
An order for the test must be ordered by your personal physician.
The physician will instruct you, if necessary, to discontinue drugs
that will most likely compromise the results of the test.
Also check with your physician that the correct preservative
is being used in the collection jug.  There are several
porphyrin urine tests and each has its own specified preservative.

        A few things to remember about the tests is that light, air,
and heat will effect the outcome of the test because these factors will
lower the porphyrin count in the collection. Be sure that the cap is
securely screw onto the container to avoid the leakage of air or
light into the container.

On day 1, urinate into the toilet upon arising in the morning.

Collect all subsequent urine in the special plastic "hat" for the next
24-hours.

On the second day urinate and pour all of the urine into the container in
the morning upon arising. Cap the container. Keep it in the refrigerator or a cool place [36 to 40 degrees F.] during the entire collection period.
Label the container with your name, the date, the time of completion,
and return it as instructed by yopur physician.

        Submit the collection   to the laboratory or your physician as soon
as possible upon completion of the test.  Be sure that it is properly stored
in refrigeration and not left on the counter in the light and heat.
It would be good to walk with the lab tech to the storage area and
also find out the time it will be transfered to the assaying lab, and
expected time of results.  Be sure to always follow through on the
test during the entire process to avoid the test being compromised in some way.

        Avoid exposure of the urine to direct light.  The best results for
this test happen when the urine is voided in complete darkness and
poure directly into the collection jug in the dark or very dim
indirect light. This test is useful in detecting specific liver abnormalities and
is a good indicator test for patients suspected of having porphyria.

        Delta-ALA is a chemical produced from amino acids in the liver.
It is the basic "building block" for the synthesis of porphyrins.
The most important function of porphyrins are as components
of heme.  Heme is the major building block of hemoglobin.
Oxygen binds to the iron in the heme molecules.

        Various kinds of porphyrins exist with the same basic structure
 but with slightly different chemical "side-chains". The major biochemical pathway is:

delta-ALA
PBG
uroporphyrin
coproporphyrin
protoporphyrin
heme

        Each step in the pathway requires a specific enzyme.
If any of the enzymes is deficient, them a type of porphyria results.
Normal values 1 to 7 mg per 24-hours

        Before starting this test be sure that you are NOT taking any drugs
which may compromise the test results.

        Drugs that may increase test measurements include penicillin,
barbiturates, oral contraceptives, and griseofulvin.

        Increased abnormal  levels of urinary delta-ALA may indicate
many types of porphyria. In addition increased levels may indicate lead poisoning. Decreased levels may occur with chronic liver disease.

Dr. Robert Johnson MD

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PBG   Urine testing


            The PBG Urine test is a  test that measures the amount
of porphobilinogen in the urine. Another name for the test is the PHB test.

            The test of completed by collecting a 24-hour urine sample.
The test must be ordered by your physician.    Your physician will instruct
you as to what drugs you may have to    discontinue because some drugs  may interfere with the test results. It is impereative that you do not use
certain drugs or use any alcohol for a week prior to collection of the test.

            Also please note that you are NOT to undergo glucose
injection or infusion until after the collection has been made. The use of glucose will dramatically reduce porphyrin levels in the test results.

            Before you leave the physician's office, be sure that the
collection jug has the correct preservative within the jug. On day 1,
urinate into the toilet upon arising in the morning.

        Collect all subsequent urine in a special container called a "hat"
for the next 24-hours.

        But sure to try and void in as limited of light as possible. Exposure of the urine to light will diminish the total porphyrins and the object of the test is to have as high as possible count of porphyrins.

        Also note that of the collection  toexposure to air will diminish
the porphyrins and therefore you should never let the voided urine stand in
the hat, but immediately.

        On day 2, urinate into the  "hat" and immediately pout into the
container in the morning upon arising.

        Be sure that the cap is on the container at all times.
Keep it in the refrigerator or a cool place during the collection period.

        Be sure that the collection jug is labeled with your name, the date,
the time of completion.

        Then  the next step is to  return  the collection jug  as instructed
by your physician.  To safeguard your collection and to be sure that
it is not compromised, accompany it to the lab, and go with it to the
area where it is being stored and see it safety refrigerated. Remember that
many a collection sample has been compromised because it was left unattended on a lab counter in light and heat.

        Ask questions. Find out when it is being shipped and to whom. When it is expected to arrive and when the results are expected to be completed and returned.

        Following the directions of your phyrisician immediately deliver the
collection jug.  Be sure that it is refrigerator upon receipt.

            This  test may is  performed when porphyria or another disorder
associated with abnormal PBG level is suspected.

            PBG is a substance (enzyme) used by the body to synthesize
porphyrins (nitrogen containing organisms).

            The important function of porphyrins is as components of heme.

        Heme is made from iron + protoporphyrin. Hemoglobin is made up of four globin proteins + 4 heme groups. Oxygen binds to the iron in the heme molecules.

           Various kinds of porphyrins exist with the same basic structure,
but with slightly different chemical appearance.

            The major biochemical pathway includes conversions from
porphyrins to delta-ALA, then to PBG, then uroporphyrin, then coproporphyrin, then protoporphyrin, and finally into the end product, heme.

            Each step requires the presence of an enzyme. If any of the enzymes are deficient (because of a genetic disease or inhibition by a toxic substance), a type of porphyria results. The following are the normal values for the PBG 24-hour urine test. 1.5 to 2 mg (milligrams) per 24-hours Many drugs can affect the results of the PBG 24 urine test. Drugs that can affect test measurements include aminosalicylic
acid, barbiturates, chloral hydrate, chlorpropamide, ethyl alcohol, griseofulvin, morphine, oral contraceptives, phenazopyridine, procaine, and sulfonamides. Abnormal increased levels of urinary PBG may indicate several types of porphyria. In addition elevated PBG may indicate hepatic carcinoma (liver cancer) , cirrhrosis, hepatitis,  and lead poisoning.

Dr. Robert Johnson MD

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24 HOUR PORPHYRIN URINE TEST

        The Porphyrin Urine Tests is a  test that measures the level of
porphyrins in urine.

        An alternative name for this test is The Uropoprhyrin Test.

        The test is performed by the collection of a urine for a 24-hour
period.

        The test must be ordered by a physician. The ordering physician
will  instruct you, if necessary, to discontinue drugs that may interfere with the test.

        Be sure that the proper preservative has been added to the
collection jug before leaving your doctor's office. Many a porphyrin urine
test has been compromised because of the wrong perservative being used or lack of a preservative.

        On day 1, urinate into the toilet upon arising in the morning.

        Collect all subsequent urine (in a special container) for the next
24-hours.

        On day 2, urinate into the container in the morning upon arising.

        Always cap the container.

        Always void into a special "hat" which fits into the average toilet seat.

        Do not let the voided urine sit in the hat.  Pour it immediately
into the collection jug. Exposure to air will compromise the collection.

        Try to void with no direct light  as exposure of urine to light will
diminish the number of porphyrin, and the higher number of porphyrin
in the urine,  is what is needed for an accurate test assay.

        Be sure that no toilet tissue touches the collection as chemicals
in paper products will compromise the collection.

        Keep it in the refrigerator or a cool place during the collection
period.  Ideally the temperature should run between 36-40 degrees, that of
the standard refrigerator setting.

        Always be sure that the container is marked with your name, the
date, the time of completion, and return it as instructed. Do not let it sit
out in room temperatures or in bright light.

    Be sure the receptionist at the lab takes it to the proper storage
in the lab immediately. Ascertain that it has been properly stored
at the lab.  Find out when it will be transported and how it will be
transported to the assaying laboratory. ALso find out when the assay is to
be run and when the results will be know.  Asking these questions helps
alleviate any problems of a lost specimen and/or compromised tests results. There are no risks in performing this test.

    The reason that this test is performed  is because of a high degree of
suspicion that the patient may have porphyria.

        The most important function of porphyrins is as components of heme.
Heme is made from iron + protoporphyrin.

        Hemoglobin is made up of four globin proteins + 4 heme groups.
Oxygen binds to the iron in the heme molecules.

        Various kinds of porphyrins exist with the same basic structure.
 However the various kinds of porphyrins  have slightly different chemical
appearance.

        The major biochemical pathway includes conversions from
porphyrins to delta-ALA, then to PBG, then uroporphyrin,
then coproporphyrin, then protoporphyrin, and finally into the end product, heme.

        Each step requires the presence of an enzyme. If any of the enzymes
are deficient (because of a genetic disease or inhibition by a toxic
substance), a type of porphyria results. Normal values for porphyria
urine tests are as follows: random urine: negative test
24-hour urine: 50 to 300 mg per 24-hours Note: mg = milligrams

        Before you undertake this porphyrin urine test you must determine
whether you have taken any drugs which can affect test measurements.

        These drugs include aminosalicylic acid, barbiturates, chloral
hydrate, chlorpropamide, ethyl alcohol, griseofulvin, morphine, oral
contraceptives, phenazopyridine, procaine, and sulfonamides.

        Abnormal tests results which result in increased levels of urinary
PBG may indicate porphyria (several types), hepatic carcinoma (liver
cancer), hepatitis  or lead poisoning .

        All too often porphyrin tests must be repeated a number of times.
Timing is important for many of the tests. The best time to test is
at the onset of an acute attack and BEFORE   GLUCOSE infusion has begun.

Dr. Robert Johnson, MD

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Problems with Porphyrin Urinary Testing in a Hospital Setting

        As I recall  a porphyria patient of mine, the  urinary porphyrin test would  not show anything for her time and again when she would go into an attack over a weekend or when I was on vacation.

        She would fo to the ER and instead of regarding the diagnostic urinary testing as a priority, they would finish placing her i.v. line and instead of waiting while she completed the testing , they would immediately begin the glucose.

        When  gluocse  is started, it immediately begins to repress the over productions of porphyrins in the liver. By the time the 24 hours is completed  there are no or very little porphyrin population left  in urine.  The laboratory   will find nothing. And then generally the phyhsicians reviewing the test results will assume that the patient is not porphyric based upon the results.

        This problem continued for several years unless one day
she came to the clinic directly and I told her she could do just
as well at home for 24 hours and then I would admit here because our
facility was at a capacity level and medically there was nothing we could
not do for her at home.

        Then  the test came back uncompromised and the results
were most dramatic. Very elevated and beyond a doubt. Then the
problem was for me to figure out why this had not been the case
with previous testings.

        After reviewing charts and procedures it was clear that
the admitting  doctors did not  understand the connection between
testing and compromised collection if administered glucose.

        Even between acute  crises this patient had spot checked
with high urinary porphyrin levels, although for many patients
such spot checks fail to show any elevation during times of remission.

        My admonishment is to not  expect a positive result for your urine
test if it is administered at the hospital and you are placed on glucose.

        The best time to have urine and stool 24h  tests is when you begin
to have symptoms but do not  need to go to ER. When you follow through here, if you are porphyric, your test results will  in this case the level will be very high most likely.

Dr. Robert Johnson M.D.

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