Protoporphyria, Erythropoietic

Erytropoetisk protoporfyri

Engelsk definition

An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.

Svenska synonymer


Engelska synonymer

Erythropoietic Protoporphyrias Protoporphyrias, Erythropoietic Erythrohepatic Protoporphyria Erythropoietic Protoporphyria Ferrochelatase Deficiency Deficiencies, Ferrochelatase Deficiency, Ferrochelatase Ferrochelatase Deficiencies Heme Synthetase Deficiency Deficiencies, Heme Synthetase Deficiency, Heme Synthetase Heme Synthetase Deficiencies Synthetase Deficiencies, Heme Synthetase Deficiency, Heme