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

Término preferido

Protoporphyria, Erythropoietic  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • Erythrohepatic Protoporphyria
  • Erythropoietic Protoporphyria

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-SRR94M77-S

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RDF/XML TURTLE JSON-LD Creado 15/7/04, última modificación 8/6/15