Patients who are genetically proned for acute porphyria probably rather
often will have normal urinary excretion of prophyrines and porphyrinogens
outside attacks. We therefore believe, that a more reliable biochemically
diagnosis would be obtained if enzyme-activity are measured - in the case of
acute intermittent porphyria ery-PBGD activity. Alternatively, analysis of
the relevant genes from the heme-synthesis pathway may give the diagnosis.
We offer you with pleasure to analyse the Porphobilinogen Deaminase (acute
intermittent porphyria) and Coproporphyrinogen Oxidase (hereditary
coproporphyria) gene in DNA from this patient if you send us a DNA-sample
(or just an EDTA-blood sample). Later this year, we expect to be able to
offer you an analysis for mutations within the Protoporphyrinogen Oxidase
gene (porphyria variegata) as well.
Regards
Niels Erik Petersen
Consultant, associate professor, PhD
The Danish Porphyria Center
and
Dept. KKA, Clinical Biochemistry
Odense University Hospital
5000 C, Odense
Denmark
E-mail: [log in to unmask]
Phone: +45 6541 1978
Fax: +45 6541 1911
-----Original Message-----
From: [log in to unmask]
[mailto:[log in to unmask]]On Behalf Of Dirk Bakkeren
Sent: 27. april 1999 15:20
To: ACB Mailbase
Subject: Puzzling porfyrin profile
We currently have a young woman in our outpatient clinic with a puzzling
porphyrin profile.
This 38 year old woman has an extensive psychiatric history combined with
abdominal pain. She was referred by her psychiatrist to our local
gastroenterologist.
Physical examination and routine chemistry and haematology mostly normal,
but a showed few marginal results.
ALT 42 U/l (n= < 25 U/L); slightly elevated
Hb 7.9 mmol/L (n= 7.8 - 10.2 mmol/l);
MCV 99 fL (n= 81-100 fL);
cortisol 8:00 h 0.51 ummol/L n= 0.15 -0.70 :mmol/L)
cortisol 16:00 h 0.41 ummol/L (n= < 60% 8:00 h value)
The gastroenterologist requested a porfyrin profile in plasma and urine,
which we send out to an external laboratory.
The results are:
Plasma:
Protoporphyrin 45 nmol/L (n= <555 nmol/L)
Urin:
Uroporphyrin 5.1 ummol/mmol creatinin (n= 0.6 - 2.9)
Copro.porf I 9.6 ummol/mmol creatinin (n= 1.0 - 5.8)
Copro.porf III 50.9 ummol/mmol creatinin (n= 2.9 - 19.3)
% copro.porf III 84 % (n= 66 - 86)
COMMENT ON COPRO III: results point to liver disease or secondary to
increased haem
synthesis
Porfo.bili 1.9 mmol/mmol creatinin (n= 0.0 - 1.2)
Delta ALA
I can not fit the results below with any known porphyry.
Does anybody have clue?
Can it be an acute itermitting porphyry? I thought delta ALA was much higher
in urin with AIP?
Dirk Bakkeren
klinisch chemicus
Diaconessenhuis Eindhoven
Nederland
%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%%
|