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.

Descriptor ID	D046351
MeSH Number(s)	C06.552.830.812 C16.320.850.742.812 C17.800.827.742.812 C18.452.811.400.812
Concept/Terms	Protoporphyria, Erythropoietic Protoporphyria, Erythropoietic Erythropoietic Protoporphyrias Protoporphyrias, Erythropoietic Erythrohepatic Protoporphyria Erythropoietic Protoporphyria Ferrochelatase Deficiency 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

Below are MeSH descriptors whose meaning is more general than "Protoporphyria, Erythropoietic".

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Below are MeSH descriptors whose meaning is more specific than "Protoporphyria, Erythropoietic".