Catalog

Homozygous hereditary coproporphyria

No MMS code

Link to WHO Definition

Homozygous hereditary coproporphyria – http://id.who.int/icd/entity/1508947573

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.