Protoporphyria, Erythropoietic

**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.

**Tree numbers:** - C06.552.830.812 - C16.320.850.742.812 - C17.800.827.742.812 - C18.452.811.400.812

**Synonyms:** - Erythropoietic Protoporphyria - Erythrohepatic Protoporphyria