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Concept information

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

Terme préférentiel

Dihydropyrimidine Dehydrogenase Deficiency  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Synonyme(s)

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

Qualificatif(s) autorisé(s)

Traductions

URI

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

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RDF/XML TURTLE JSON-LD Date de création 09/07/2007, dernière modification le 08/07/2013