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South African porphyria

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Variegate porphyria is an autosomal dominant condition caused by deficiency of protoporphyrinogen oxidase (chromosome 14). It is relatively rare in most parts of the world with the exception of South Africa where it is common (1 in 300 individuals) among the whites and coloureds. The high South African prevalence arises from the "founder" effect where many of the cases can be traced to a pair of early settlers who emigrated to South Africa from Holland in 1688.

The abdominal and neurologic features of VP resemble those of acute intermittent porphyria except that they are almost always precipitated by a drug; the cutaneous manifestations and photosensitivity resemble porphyria cutanea tarda.


General Practice Notebook
General Practice Notebook
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