A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report

• Main Authors: Malihe Mirzaei (Author), Arghavan Kavosi (Author), Mahboobeh Sharifzadeh (Author), Ghazale Mahjoub (Author), Mohammad Ali Faghihi (Author), Parham Habibzadeh (Author), Majid Yavarian (Author)
• Format: Book
• Published: BMC, 2020-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Dihidropyrimidinase (DHP) deficiency is an inherited inborn error of pyrimidine metabolism with a variable clinical presentation and even asymptomatic subjects. Dihydropyrimidinase is encoded by the DPYS gene, thus pathogenic mutations in this gene can cause DHP deficiency. To da...