A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.

ABSTRACT:

Background

Dihydropyrimidine dehydrogenase (DPD), is the initial and rate-limiting enzyme in the catabolic pathway of pyrimidines. Deleterious variants in the DPYD gene cause DPD deficiency, a rare autosomal recessive disorder. The clinical spectrum of affected individuals is wide ranging from asymptomatic to severely affected patients presenting with intellectual disability, motor retardation, developmental delay and seizures. DPD is also important as the main enzyme in the catabolism of 5-fluorouracil (5-FU) which is extensively used as a chemotherapeutic agent. Even in the absence of clinical symptoms, individuals with either complete or partial DPD deficiency face a high risk of severe and even fatal fluoropyrimidine-associated toxicity. The identification of causative genetic

SUBMITTER: Malekkou A 

PROVIDER: S-EPMC10962175 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature