Coproporphyria, Hereditary


Coproporphyrinogen Oxidase Deficiency

Deficiency, Coproporphyrinogen Oxidase

Hereditary Coproporphyria

An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.