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.
Also Known As:
DPD Deficiency; Dihydropyrimidinuria; Familial Pyrimidemia; Familial Pyrimidinemia; Hereditary Thymine-Uraciluria; Pyrimidinemia, Familial; Thymine-Uraciluria, Hereditary; DPD Deficiencies; Deficiencies, DPD; Deficiencies, Dihydropyrimidine Dehydrogenase; Deficiency, DPD; Deficiency, Dihydropyrimidine Dehydrogenase; Dehydrogenase Deficiencies, Dihydropyrimidine; Dehydrogenase Deficiency, Dihydropyrimidine; Dihydropyrimidine Dehydrogenase Deficiencies; Dihydropyrimidinurias; Familial Pyrimidemias; Familial Pyrimidinemias; Hereditary Thymine Uraciluria; Hereditary Thymine-Uracilurias; Pyrimidemia, Familial; Pyrimidemias, Familial; Pyrimidinemias, Familial; Thymine Uraciluria, Hereditary; Thymine-Uracilurias, Hereditary