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variegate porphyria

 

Definition: porphyria characterized by abdominal pain and neuropsychiatric abnormalities, by dermal sensitivity to light and mechanical trauma, by increased fecal excretion of proto- and coproporphyrin, and by increased urinary excretion of ?-aminolevulinic acid, porphobilinogen, and porphyrins; due to a deficiency of protoporphyrinogen oxidase; autosomal dominant inheritance, caused by mutation in the gene for protoporphyrinogen oxidase (PPOX) on chromosome 1q.

Synonym(s): protocoproporphyria hereditaria, royal malady, South African type porphyria

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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