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Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Porphyrias, Hepatic > Protoporphyria, Erythropoietic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Porphyrias, Hepatic > Protoporphyria, Erythropoietic
Digestive System Diseases > Liver Diseases > Porphyrias, Hepatic > Protoporphyria, Erythropoietic
Nutritional and Metabolic Diseases > Metabolic Diseases > Porphyrias > Porphyrias, Hepatic > Protoporphyria, Erythropoietic

Preferred term

Protoporphyria, Erythropoietic  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Erythrohepatic Protoporphyria
  • Erythropoietic Protoporphyria

Note

  • do not confuse with PORPHYRIA, ERYTHROPOIETIC

Scope note

  • 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.

History note

  • 2005; use PORPHYRIA, ERYTHROHEPATIC 1993-2004

In other languages

URI

http://www.yso.fi/onto/mesh/D046351

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