PMID: 9638727Jun 25, 1998Paper

Update on enzyme and molecular defects in porphyria

Photodermatology, Photoimmunology & Photomedicine
G H Elder

Abstract

Each porphyria results from decreased activity of one of the enzymes of haem biosynthesis. The molecular basis of enzyme deficiencies in acute intermittent porphyria (AIP), variegate porphyria (VP) and congenital erythropoietic porphyria (CEP) is outlined. All three conditions show extensive allelic heterogeneity. In the autosomal dominant disorders, AIP and VP, no genotype/phenotype correlations have been demonstrated, and the explanation for their low clinical penetrance remains uncertain. In AIP and VP, mutational analysis is superior to biochemical methods for screening families for latent porphyria. In the autosomal recessive condition, CEP, there is some genotype/phenotype correlation--one common mutation (C73R) being associated with severe disease in homozygotes. Porphyria cutanea tarda (PCT) is not a simple monogenic disorder. Patients appear to have an inherited susceptibility to inactivation of hepatic uroporphyrinogen decarboxylase (UROD) as part of a response to hepatocyte injury by alcohol, HCV and other agents. Inherited factors that, in combination, may predispose to PCT include mutations in the UROD gene, present in about 20% of patients, and the C282Y mutation in the haemochromatosis (HFE) gene.

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Citations

May 9, 2014·European Journal of Internal Medicine·Paolo VenturaUNKNOWN Gruppo Italiano Porfiria (GrIP)
Sep 5, 2002·International Journal of Health Services : Planning, Administration, Evaluation·Eeva Ollila, Meri Koivusalo
Jul 31, 2020·Biodemography and Social Biology·Guangyu Tong, Guang Guo
Dec 9, 2015·World Journal of Hepatology·Simone GarcovichMaria Assunta Zocco
Dec 22, 1999·Seminars in Cutaneous Medicine and Surgery·H W Lim, J L Cohen

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