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.
Ferrokelatasbrist
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