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

Search Stedman's Medical Dictionary