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Concept information

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

Terme préférentiel

Coproporphyria, Hereditary  

Type

  • mesh:Descriptor

Définition

  • An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.

Concept générique

Synonyme(s)

  • Coproporphyrinogen Oxidase Deficiency
  • Hereditary Coproporphyria

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-Z5N5BXJ4-1

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RDF/XML TURTLE JSON-LD Date de création 07/07/2004, dernière modification le 08/06/2015