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.


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