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PMID: 340378 Published · ppublish English Journal Article Review

Enzymatic defects of hereditary porphyrias: an explanation of dominance at the molecular level.

Human genetics ·Vol. 39 ·No. 3 ·1977-12-23 ·Pages 261-76

Romeo G

Abstract

In four of the five autosomal dominant porphyrias four different partial enzymatic defects of the porphyrin biosynthetic pathway have been discovered in the last few years. With the exception of protoporphyria, the residual enzymatic activity in carriers of these defects is approximately equal to 50% of that found in controls. In each case the pattern of excretion of porphyrin and/or porphyrin precursors reflects the stie of the partial metabolic block. There are indications, at least in intermittent acute porphyria, that the degree of penetrance of the disorder varies according to the level of phenotypic expression, being highest for the enzyme deficiency, lower for the excretion of precursors and lowest for the clinical symptoms. It is proposed that environmental factors, and probably also gene interaction, are the cause of the different degrees of penetrance.

MeSH Terms
5-Aminolevulinate Synthetase/analysis Acute Disease Coproporphyrins/metabolism,urine Humans Liver/enzymology Phenotype Porphyrias/congenital,enzymology,genetics Porphyrins/biosynthesis,urine Protoporphyrins/metabolism
Chemicals
Coproporphyrins Porphyrins Protoporphyrins 5-Aminolevulinate Synthetase
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Romeo G
References (45)
45 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00295419
Published
1977-12-23
Pages
261-76
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00295419 View journal details
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