Porphyria, Variegate

Porphyria variegata

Engelsk definition

An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Variegate Porphyria Porphyria, South African Type Ppox Deficiency Deficiency, Ppox Ppox Deficiencies Porphyria Variegata Protoporphyrinogen Oxidase Deficiency Porphyria Variegate