Biochemical Diagnosis of a Fatal Case of Günther ’s Disease in a Newborn with Hydrops Foetalis

Biochemical Diagnosis of a Fatal Case of Günther ’s Disease in a Newborn with Hydrops Foetalis Introduction , . . . . . ,, Günther's disease, also called congenital erythropoietic porphyria (CEP), is a very rare (less than 200 cases reported) type of porphyria (1, 2). Congenital Eur. J. Clin. Chem. Clin. Biochem. / Vol. 31,1993 / No. 3 erythropoietic porphyna is characterized by an overproduction of porphyrins of isomer I series, with accumulation of these compounds in bone marrow erythroblasts, teeth and bones (1,2). These porphyrins Verstraeten et al.: Fatal case of Günther9* disease in a newborn are excreted in excess in urine and faeces (1, 2). Patients with congenital erythropoietic porphyria show an inability to maintain the normal production of porphyrins of isomer III type, consistent with diminished activity of uroporphyrinogen III synthase1) (or cosynthetase or hydroxymethylbilane hydrolase cyclizing, EC 3.2.1.75) (3). Congenital erythropoietic porphyria is inherited as a Mendelian autosomal recessive trait (4). The onset of the majority of cases occurs before the 6th year of life and the main symptoms are cutaneous photosensitivity and haemolysis (5). Congenital erythropoietic porphyria is very rarely detected in utero or at birth (6, 7, 8). Our patient is a male premature neonate. Birth was induced at 32 weeks, because he presented in utero, inter http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Chemistry and Laboratory Medicine de Gruyter

Loading next page...
 
/lp/de-gruyter/biochemical-diagnosis-of-a-fatal-case-of-g-nther-s-disease-in-a-IjzrS73Itw
Publisher
de Gruyter
Copyright
Copyright © 2009 Walter de Gruyter
ISSN
1434-6621
eISSN
1437-4331
DOI
10.1515/cclm.1993.31.3.121
Publisher site
See Article on Publisher Site

Abstract

Introduction , . . . . . ,, Günther's disease, also called congenital erythropoietic porphyria (CEP), is a very rare (less than 200 cases reported) type of porphyria (1, 2). Congenital Eur. J. Clin. Chem. Clin. Biochem. / Vol. 31,1993 / No. 3 erythropoietic porphyna is characterized by an overproduction of porphyrins of isomer I series, with accumulation of these compounds in bone marrow erythroblasts, teeth and bones (1,2). These porphyrins Verstraeten et al.: Fatal case of Günther9* disease in a newborn are excreted in excess in urine and faeces (1, 2). Patients with congenital erythropoietic porphyria show an inability to maintain the normal production of porphyrins of isomer III type, consistent with diminished activity of uroporphyrinogen III synthase1) (or cosynthetase or hydroxymethylbilane hydrolase cyclizing, EC 3.2.1.75) (3). Congenital erythropoietic porphyria is inherited as a Mendelian autosomal recessive trait (4). The onset of the majority of cases occurs before the 6th year of life and the main symptoms are cutaneous photosensitivity and haemolysis (5). Congenital erythropoietic porphyria is very rarely detected in utero or at birth (6, 7, 8). Our patient is a male premature neonate. Birth was induced at 32 weeks, because he presented in utero, inter

Journal

Clinical Chemistry and Laboratory Medicinede Gruyter

Published: Jan 1, 1993

There are no references for this article.

You’re reading a free preview. Subscribe to read the entire article.


DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Search

Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly

Organize

Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.

Access

Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

DeepDyve

Freelancer

DeepDyve

Pro

Price

FREE

$49/month
$360/year

Save searches from
Google Scholar,
PubMed

Create folders to
organize your research

Export folders, citations

Read DeepDyve articles

Abstract access only

Unlimited access to over
18 million full-text articles

Print

20 pages / month

PDF Discount

20% off