hereditary coproporphyria
- hereditary coproporphyria
- (HCP) an autosomal dominant hepatic porphyria caused by mutations of the CPOX gene (locus: 3q12) that result in partial deficiency of coproporphyrinogen oxidase activity. It is characterized by recurrent attacks of gastroenterologic and neurologic dysfunction similar to those of acute intermittent porphyria, and sometimes by cutaneous photosensitivity. Coproporphyrin III is excreted constantly in the feces and intermittently, with δ-aminolevulinic acid and porphobilinogen, in the urine.
Medical dictionary.
2011.
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