Related MeSH Hierarchy (4)
Diseases [C] » Digestive System Diseases [C06] » Liver Diseases » Porphyrias, Hepatic » Protoporphyria, Erythropoietic
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Skin Diseases, Genetic » 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
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Approved Indicated Drugs (2)
Phase 3 Indicated Drugs (2)
Phase 2 Indicated Drugs (1)
Other Experimental Indicated Drugs (2)
Organization Involved with Phase 3 Indications (11)
Organization Involved with Phase 2 Indications (1)
Organization Involved with Other Experimental Indications (7)
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UMLS Data
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