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

Término preferido

Porphyria, Variegate  

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Tipo

  • mesh:Descriptor

Definición

  • An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh 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, COPROPORPHYRINS and protoporphyrinogen.

Concepto genérico

Etiquetas alternativas

  • Porphyria, South African Type
  • Porphyria Variegata
  • Porphyria Variegate
  • Ppox Deficiency
  • Protoporphyrinogen Oxidase Deficiency
  • Variegate Porphyria

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-LB1ZJ9F8-V

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RDF/XML TURTLE JSON-LD Creado 15/7/04, última modificación 28/2/20