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Dihydropyrimidine Dehydrogenase Deficiency

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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. [ ]

Term info

Label

Dihydropyrimidine Dehydrogenase Deficiency

Synonyms
  • DPD Deficiency
  • DYPD Deficiency
  • Dihydropyrimidine Dehydrogenase Deficiency
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

Dihydropyrimidine Dehydrogenase Deficiency

Preferred Name

Dihydropyrimidine Dehydrogenase Deficiency

Semantic Type

Disease or Syndrome

UMLS CUI

C1959620

code

C84672