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

Preferred term

Dihydropyrimidine Dehydrogenase Deficiency  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Deficiencies, DPD
  • Deficiency, DPD
  • DPD Deficiencies
  • DPD Deficiency
  • Familial Pyrimidemia
  • Familial Pyrimidemias
  • Familial Pyrimidinemia
  • Familial Pyrimidinemias
  • Hereditary Thymine Uraciluria
  • Hereditary Thymine-Uraciluria
  • Hereditary Thymine-Uracilurias
  • Pyrimidemia, Familial
  • Pyrimidemias, Familial
  • Pyrimidinemia, Familial
  • Pyrimidinemias, Familial
  • Thymine Uraciluria, Hereditary
  • Thymine-Uraciluria, Hereditary
  • Thymine-Uracilurias, Hereditary

Scope note

  • 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.

History note

  • 2008

In other languages

URI

http://www.yso.fi/onto/mesh/D054067

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