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.
Dihydropyrimidinuri — DPD-brist
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