biostudies-literatureUnknown17(1)Malekkou A<h4>Background</h4>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 BMC medical genomics78https://www.ebi.ac.uk/biostudies/studies/S-EPMC10962175biostudies-literatureA novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.PMC10962175Tomazou MPetrou PPPapaevripidou IAlexandrou AMalekkou AGeorgiou TDionysiou MDrousiotou AMavrikiou GGrafakou OSismani CfalseA novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.<h4>Background</h4>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 2024-01-01T00:00:00Z2024 Mar2026-06-02T08:35:20.476Z2025-04-07T10:39:05.225ZS-EPMC109621753852859310.1186/s12920-024-01846-2