PMID: 8985829Nov 1, 1996Paper

Review: molecular pathogenesis of hepatic acute porphyrias

Journal of Gastroenterology and Hepatology
B GrandchampY Nordmann

Abstract

The molecular cloning of cDNA and genes encoding enzymes of the haem biosynthetic pathway have permitted the genetic defects underlying acute intermittent porphyria (AIP) and hereditary coproporphyria to be unravelled. In AIP, many different gene abnormalities have been documented since 1989. The prevalence of specific defective alleles among AIP families depends on which human population is studied. Founder effects are likely to account for a high frequency of a single mutation in Finland and, to a lesser extent, in Holland, while many other mutations have only been found once, each of them in a single family. In hereditary coproporphyria several different mutations have already been identified since 1994, suggesting that a large allelic heterogeneity also exists. The search for mutations in variegate porphyria has just started since the recent publication of the human cDNA sequence. Direct detection of the mutations using DNA analysis brings a growing contribution to the detection of asymptomatic carriers among relatives of porphyric patients and will, therefore, improve the prevention of acute attacks.

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Citations

Oct 1, 2010·Internal and Emergency Medicine·Antonello Pietrangelo
Jul 5, 2006·Journal of Pediatric Gastroenterology and Nutrition·Joseph R BloomerHiba Risheg
Jul 27, 1999·The Journal of Investigative Dermatology·X WangM B Poh-Fitzpatrick
Nov 5, 1997·The Journal of Investigative Dermatology·X WangM B Poh-Fitzpatrick
Oct 20, 2010·Best Practice & Research. Clinical Gastroenterology·Marko SiegesmundJorge Frank
Aug 3, 2006·Experimental Dermatology·Pamela Poblete-GutiérrezJorge Frank
Feb 1, 1997·Environmental Health Perspectives·W E DaniellG M Franklin
Aug 28, 2021·Diagnostics·Elena Di PierroSilvia Fustinoni

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