Skip navigation

Disease Dihydropyrimidine Dehydrogenase Deficiency

Name Dihydropyrimidine Dehydrogenase Deficiency
Synonyms Deficiencies, Dihydropyrimidine Dehydrogenase | Deficiencies, DPD | Deficiency, Dihydropyrimidine Dehydrogenase | Deficiency, DPD | Dehydrogenase Deficiencies, Dihydropyrimidine | Dehydrogenase Deficiency, Dihydropyrimidine | Dihydropyrimidine Dehydrogenase Deficiencies | Dihydropyrimidinuria | Dihydropyrimidinurias | DPD Deficiencies | DPD Deficiency | DPYD DEFICIENCY | Familial Pyrimidemia | Familial Pyrimidemias | Familial Pyrimidinemia | Familial Pyrimidinemias | Hereditary Thymine Uraciluria | Hereditary Thymine-Uraciluria | Hereditary Thymine-Uracilurias | Pyrimidemia, Familial | Pyrimidemias, Familial | Pyrimidinemia, Familial | PYRIMIDINEMIA, FAMILIAL 5-FLUOROURACIL TOXICITY, INCLUDED | Pyrimidinemias, Familial | Thymine Uraciluria, Hereditary | Thymine-Uraciluria, Hereditary | Thymine-Uracilurias, Hereditary
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D054067
OMIM® ID 274270
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Purine-Pyrimidine Metabolism, Inborn Errors Has associated chemicals Has associated genes Dihydropyrimidine Dehydrogenase Deficiency Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Purine-Pyrimidine Metabolism, Inborn Errors Has associated chemicals Has associated genes Dihydropyrimidine Dehydrogenase Deficiency Has associated chemicals Has associated genes

Top ↑ Descendants

Dihydropyrimidine Dehydrogenase Deficiency Has associated chemicals Has associated genes
  5 alpha Fluorouracil toxicity