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Porphyria is the name given to a group of inherited disorders due to defective enzymes in the metabolic pathway of haem biosynthesis, marked by the accumulation of porphyrins in the blood, excretion of these in urine and stool, extreme sensitivity to sunlight and fragile skin. Variegate porphyria (VP) is a dominant condition which is common in mainly Afrikaans speaking South Africans. The incidence is about 3 in 1000. VP is an acute form of porphyria with women more often acutely affected. The age of onset is usually after puberty. Acute intermittent porphyria (AIP) is also fairly well known in various populations in South Africa. In both VP and AIP, the risk factors known to precipitate acute attacks should be avoided by patients. Most important among these are certain medications, steroid hormones and anaesthetics, as well as severe fasting, stress, infections and alcohol. Of the non-acute forms of porphyria, symptomatic porphyria [or Porphyria cutanea tarda (PCT)] occurs commonly among the black people of South Africa.
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