Coproporphyria, Hereditary |
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| Coproporphyrinogen Oxidase Deficiency; Hereditary Coproporphyria; Deficiency, Coproporphyrinogen Oxidase | |
| 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. | |