royal malady

var·ie·gate por·phyr·i·a (VP),

[MIM*176200] 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 δ-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

royal malady

(1) Variegate porphyria, see there.
(2) Factor VIII deficiency, see there.

单词	royal malady
释义	royal malady var·ie·gate por·phyr·i·a (VP), [MIM176200] 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 δ-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 royal malady (1) Variegate porphyria, see there. (2) Factor VIII deficiency, see there.
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