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PMID: 730158 Published · ppublish English Journal Article

Familial and sporadic porphyria cutanea: two different diseases.

Human genetics ·Vol. 44 ·No. 2 ·1978-10-31 ·Pages 145-51

de Verneuil H, Aitken G, Nordmann Y

Abstract

Uroporphyrinogen (URO) decarboxylase was measured in hemoglobin-free erythrocytes from subjects with familial porphyria cutanea: the mean activity was about 50% of that found in erythrocytes from normal subjects. Asymptomatic carriers were always found in the family. No enzyme deficiency was found in erythrocytes from subjects with sporadic porphyria cutanea. The measurement of URO decarboxylase in erythrocytes seems to allow an easy distinction between these two groups of porphyria cutanea.

MeSH Terms
Adolescent Adult Carboxy-Lyases/metabolism Child Diagnosis, Differential Erythrocytes/enzymology Female Humans Male Pedigree Porphyrias/diagnosis,genetics Uroporphyrinogen Decarboxylase/genetics,metabolism
Chemicals
Carboxy-Lyases Uroporphyrinogen Decarboxylase
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
de Verneuil H
Aitken G
Nordmann Y
References (11)
11 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00295407
Published
1978-10-31
Pages
145-51
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00295407 View journal details
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