Document Detail


Acquired and inherited porphyria: clinical and biochemical features.
MedLine Citation:
PMID:  7085169     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Inheritance in 30 cases of porphyria cutanea tarda (PCT) and their relatives was investigated. Seventeen families were studied using the clinical criteria, quantitation, and thin layer chromatography of urinary porphyrins. Thirteen families (13 propositus and 48 relatives) were investigated by using the above criteria and in vitro porphyrin biosynthesis by erythrocytes from delta-aminolevulinic acid. Three different types of PCT were identified: overt, subclinical, and latent. Among 61 members examined, 13 had overt PCT. In six families, ten members had subclinical PCT and six latent PCT showing that in these six families PCT was a hereditary disorder. In seven other families inheritance could not be demonstrated.
Authors:
P H Magnin; A M del C Batlle; E A de Xifra; M Lenczner; V E Parera; A M Stella
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  International journal of dermatology     Volume:  21     ISSN:  0011-9059     ISO Abbreviation:  Int. J. Dermatol.     Publication Date:  1982 Apr 
Date Detail:
Created Date:  1982-08-07     Completed Date:  1982-08-07     Revised Date:  2006-10-30    
Medline Journal Info:
Nlm Unique ID:  0243704     Medline TA:  Int J Dermatol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  142-7     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Aminolevulinic Acid / metabolism
Chromatography, Thin Layer
Erythrocytes / metabolism
Female
Humans
Male
Pedigree
Porphyrias / genetics*
Porphyrins / biosynthesis,  urine
Skin Diseases / genetics*
Uroporphyrinogen Decarboxylase / metabolism
Chemical
Reg. No./Substance:
0/Porphyrins; 106-60-5/Aminolevulinic Acid; EC 4.1.1.37/Uroporphyrinogen Decarboxylase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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