Dihydropyrimidine Dehydrogenase Deficiency

**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.

**Tree numbers:** - C16.320.565.798.183 - C18.452.648.798.183

**Synonyms:** - Pyrimidinemia, Familial - Thymine-Uraciluria, Hereditary - Familial Pyrimidinemia - Hereditary Thymine-Uraciluria - DPD Deficiency - Familial Pyrimidemia