Dihydropyrimidine Dehydrogenase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A rare disorder characterized by an inborn error in pyrimidine metabolism. It results in the deficiency or complete absence of the enzyme dihydropyrimidine dehydrogenase. Individuals with this disorder may develop a severe toxicity reaction if they are exposed to the chemotherapeutic agent 5-fluorouracil.

**Synonyms:** - DPD Deficiency - DPYD Deficiency - Dihydrouracil Dehydrogenase Deficiency - Thymine-Uracilurea - Thymine-Uraciluria