- Compound
- CDB004792 (beta-Alanine)
- Term
- Dihydropyrimidine dehydrogenase deficiency
- Definition
- A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. (do).
- Parent Term
- Metabolism and nutrition disorders
- Parent Definition
- A group of disorders, inherited or not, that result in a metabolic malfunction.
- Synonyms
Dpd deficiencyDihydropyrimidine dehydrogenase (dpd) deficiencyOther Compounds Mapped to 'Dihydropyrimidine dehydrogenase deficiency'CDB004792 (beta-Alanine)CDB004796 (Dihydrouracil)CDB004843 (Uracil)References