Article
A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report.
BMC medical genetics - 29 Jun 2020
Mirzaei Malihe, Kavosi Arghavan, Sharifzadeh Mahboobeh, Mahjoub Ghazale, Faghihi Mohammad Ali, Habibzadeh Parham, Yavarian Majid
Abstract excerpt
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 date, several variations in the DPYS gene have been reported but only 23 of them have been confirmed to be pathogenic....
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