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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Purine-Pyrimidine Metabolism, Inborn Errors > Dihydropyrimidine Dehydrogenase Deficiency
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Purine-Pyrimidine Metabolism, Inborn Errors > Dihydropyrimidine Dehydrogenase Deficiency

Término preferido

Dihydropyrimidine Dehydrogenase Deficiency  

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Tipo

  • mesh:Descriptor

Definición

  • An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.

Concepto genérico

Etiquetas alternativas

  • DPD Deficiency
  • Familial Pyrimidemia
  • Familial Pyrimidinemia
  • Hereditary Thymine-Uraciluria
  • Pyrimidinemia, Familial
  • Thymine-Uraciluria, Hereditary

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-MBZKR2GB-M

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RDF/XML TURTLE JSON-LD Creado 9/7/07, última modificación 8/7/13