Homozygous hereditary coproporphyria (Q97011): Difference between revisions

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Latest revision as of 13:02, 16 August 2026

This is a hereditary autosomal-dominant disorder of heme biosynthesis resulting from a partial deficiency of coproporphyrinogen oxidase. It is clinically characterised by neurologic dysfunction attacks and occasional photosensitivity. This disease is rare before puberty, and all reported early-onset cases have been in the homozygous or the compound heterozygous state.

Language	Label	Description	Also known as
default for all languages	ID_1508947573
English	Homozygous hereditary coproporphyria	This is a hereditary autosomal-dominant disorder of heme biosynthesis resulting from a partial deficiency of coproporphyrinogen oxidase. It is clinically characterised by neurologic dysfunction attacks and occasional photosensitivity. This disease is rare before puberty, and all reported early-onset cases have been in the homozygous or the compound heterozygous state.