Porphyria, Variegate

**Definition:** An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh 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, COPROPORPHYRINS and protoporphyrinogen.

**Tree numbers:** - C06.552.830.625 - C16.320.850.742.625 - C17.800.827.742.625 - C18.452.811.400.625

**Synonyms:** - Variegate Porphyria - Porphyria Variegate - Protoporphyrinogen Oxidase Deficiency - Porphyria Variegata - Porphyria, South African Type - Ppox Deficiency