Protoporphyria, Erythropoietic D046351

Related MeSH Hierarchy (4)

Diseases [C] » Digestive System Diseases [C06] » Liver Diseases » Porphyrias, Hepatic » Protoporphyria, Erythropoietic

Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Skin Diseases, Genetic » Porphyrias, Hepatic » Protoporphyria, Erythropoietic

Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Porphyrias » Porphyrias, Hepatic » Protoporphyria, Erythropoietic

Description

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.   MeSH

Approved Indicated Drugs (1)

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Organization Involved with Phase 2 Indications (1)

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