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

• Main Authors: Anna Malekkou (Author), Marios Tomazou (Author), Gavriella Mavrikiou (Author), Maria Dionysiou (Author), Theodoros Georgiou (Author), Ioannis Papaevripidou (Author), Angelos Alexandrou (Author), Carolina Sismani (Author), Anthi Drousiotou (Author), Olga Grafakou (Author), Petros P. Petrou (Author)
• Format: Book
• Published: BMC, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 f...