Human hereditary hepatic porphyrias.
The human hereditary hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Porphyrias can be classified as either hepatic or erythroid, depending on the major production site of porphyrins or their precursors. The pathogenesis of inherited hepatic porphyrias has now been defined at the molecular level. Some gene carriers are vulnerable to a range of exogenous and endogenous factors, which may trigger neuropsychiatric and/or cutaneous symptoms. Early diagnosis is of prime importance since it makes way for counselling. In this article we present an overview of recent advances on hepatic porphyrias: 5-aminolevulinic acid dehydratase deficiency porphyria, acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), hereditary coproporphyria (HC), and variegate porphyria (VP).
D000818:Animals; D005192:Family Health; D006801:Humans; D000623:Porphobilinogen Synthase / Q000172:deficiency; D017119:Porphyria Cutanea Tarda; D017118:Porphyria, Acute Intermittent; D017094:Porphyrias, Hepatic / Q000145:classification / Q000175:diagnosis / Q000209:etiology
D000623:Porphobilinogen Synthase