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
Ferrokelatasbrist
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