n South African Medical Journal - The neurological manifestations of the acute porphyrias : forum : editorial




The porphyrias are a group of eight metabolic disorders, each of which is associated with a specific enzymatic alteration in the haem biosynthetic pathway. In general, the porphyrias share one or both of two clinical symptom complexes: cutaneous photosensitivity, which results from the interaction of light and photoactive porphyrin molecules in the skin; and the acute attack, a serious complication associated with a phase of accelerated hepatic porphyrin synthesis. The acute attack is a feature of four porphyrias: acute intermittent porphyria (AIP); variegate porphyria; hereditary coproporphyria; and aminolaevulinic acid (ALA) dehydratase porphyria. All four are so-called 'hepatic' porphyrias, in which the haem synthetic defect is expressed in non-erythroid cells, notably hepatocytes.


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