Dictionary > Variegate porphyria

Variegate porphyria

variegate porphyria
porphyria characterised by abdominal pain and neuropsychiatric abnormalities, by dermal sensitivity to light and mechanical trauma, by increased faecal excretion of proto-and coproporphyrin, and by increased urinary excretion of d-aminolevulinic acid, porphobilinogen, and porphyrins; due to a deficiency of protoporphyrinogen oxidase; autosomal dominant inheritance.
Synonym: protocoproporphyria hereditaria, south African type porphyria.


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