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Dihydropyrimidine Dehydrogenase Deficiency

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.

Year introduced: 2008

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Tree Number(s): C16.320.565.798.183, C18.452.648.798.183

MeSH Unique ID: D054067

Entry Terms:

  • Deficiencies, Dihydropyrimidine Dehydrogenase
  • Deficiency, Dihydropyrimidine Dehydrogenase
  • Dehydrogenase Deficiencies, Dihydropyrimidine
  • Dehydrogenase Deficiency, Dihydropyrimidine
  • Dihydropyrimidine Dehydrogenase Deficiencies
  • Pyrimidinemia, Familial
  • Thymine-Uraciluria, Hereditary
  • Hereditary Thymine-Uracilurias
  • Thymine Uraciluria, Hereditary
  • Thymine-Uracilurias, Hereditary
  • Hereditary Thymine-Uraciluria
  • Hereditary Thymine Uraciluria
  • DPD Deficiency
  • DPD Deficiencies
  • Deficiencies, DPD
  • Deficiency, DPD
  • Familial Pyrimidinemia
  • Familial Pyrimidinemias
  • Pyrimidinemias, Familial
  • Familial Pyrimidemia
  • Familial Pyrimidemias
  • Pyrimidemia, Familial
  • Pyrimidemias, Familial
  • Dihydropyrimidinuria
  • Dihydropyrimidinurias

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