Protoporphyria, Erythropoietic


Deficiencies, Ferrochelatase

Deficiencies, Heme Synthetase

Deficiency, Ferrochelatase

Deficiency, Heme Synthetase

Erythrohepatic Protoporphyria

Erythropoietic Protoporphyria

Erythropoietic Protoporphyrias

Ferrochelatase Deficiencies

Ferrochelatase Deficiency

Heme Synthetase Deficiencies

Heme Synthetase Deficiency

Protoporphyrias, Erythropoietic

Synthetase Deficiencies, Heme

Synthetase Deficiency, Heme

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.