European Porphyria NetworkDEFINITION The porphyrias are a group of disorders of the heme biosynthesis pathway that present with acute neurovisceral symptoms, skin lesions or both. All porphyrias result from partial deficiency of one of the enzymes of heme biosynthesis and, apart from the sporadic form of porphyria cutanea tarda, are inherited in monogenic patterns. Accurate diagnosis of […]
PORPHYRIA:INHERITANCE AND MOLECULAR GENETICS All the porphyrias, except PCT, are inherited in mendelian patterns. Enzyme deficiency (close to half-normal) is present in all who inherit the gene for an autosomal dominant porphyria (AIP, HCP, VP, EPP) but clinical penetrance is low (about 10% within families; about 2% from studies of the general population). Rare homozygous […]
The diagnosis of the acute attack should be made by measuring quantitative PBG before starting specific treatment for porphyria (eg with human hemin) (more about diagnosis). For patients who have previously had an unequivocally diagnosed attack of acute porphyria, it may be necessary to initiate specific treatment before the results of the laboratory investigation are […]