Homozygous hereditary coproporphyria (Q97011): Difference between revisions

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.