Erythropoietic Protoporphyria

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.

Also Known As:

Protoporphyria, Erythropoietic; Erythrohepatic Protoporphyria; Ferrochelatase Deficiency; Heme Synthetase Deficiency; Deficiencies, Ferrochelatase; Deficiencies, Heme Synthetase; Deficiency, Ferrochelatase; Deficiency, Heme Synthetase; Erythropoietic Protoporphyrias; Ferrochelatase Deficiencies; Heme Synthetase Deficiencies; Protoporphyrias, Erythropoietic; Synthetase Deficiencies, Heme; Synthetase Deficiency, Heme

Digestive System Diseases: 1042
- Liver Diseases: 41660
  - Hepatic Porphyrias: 333
    - Erythropoietic Protoporphyria: 559
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Hepatic Porphyrias: 333
      - Erythropoietic Protoporphyria: 559
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Genetic Skin Diseases: 47
    - Hepatic Porphyrias: 333
      - Erythropoietic Protoporphyria: 559
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Porphyrias: 1715
    - Hepatic Porphyrias: 333
      - Erythropoietic Protoporphyria: 559

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