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The effect of diet in variegate (South African genetic) porphyria

✍ Scribed by Mark G. Perlroth; Donald P. Tschudy; Arnold Ratner; William Spaur; Allan Redeker

Book ID: 118946626
Publisher: Elsevier Science
Year: 1968
Tongue: English
Weight: 967 KB
Volume: 17
Category: Article
ISSN: 1532-8600
DOI: 10.1016/0026-0495(68)90015-2

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Variegate porphyria is an autosomal dominant disorder of haem metabolism resulting from a partial decrease in protoporphyrinogen oxidase activity. Variegate porphyria is highly prevalent in South Africa, the result of a founder effect now confirmed genetically as a single point mutation (R59W) which