Protoporphyria, Erythropoietic
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.
Year introduced: 2005
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Tree Number(s): C06.552.830.812, C16.320.850.742.812, C17.800.827.742.812, C18.452.811.400.812
MeSH Unique ID: D046351
Entry Terms:
- Erythropoietic Protoporphyrias
- Protoporphyrias, Erythropoietic
- Erythropoietic Protoporphyria
- Erythrohepatic 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
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