: MeSH: Dihydropyrimidine Dehydrogenase Deficiency

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Purine-Pyrimidine Metabolism, Inborn Errors > Dihydropyrimidine Dehydrogenase Deficiency

Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Purine-Pyrimidine Metabolism, Inborn Errors > Dihydropyrimidine Dehydrogenase Deficiency

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.

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