Research progress of dihydropyrimidinase deficiency
10.3760/cma.j.cn101070-20190820-00771
- VernacularTitle:二氢嘧啶酶缺陷症研究进展
- Author:
Meifang LEI
;
Hong LI
;
Yuqin ZHANG
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(1):70-73
- CountryChina
- Language:Chinese
-
Abstract:
Characterized by dihydropyrimidinuria, dihydropyrimidinase (DHP) deficiency refers to a rare disorder of pyrimidine degradation, with high phenotypic heterogeneity.The disease-causing gene is DPYS, and less than 40 cases were reported worldwide.Urinary gas chromatography/mass spectrometer (GC/MS) can screen clinically suspected patients, and gene sequencing is the main means of the diagnosis of the disease.This article reviews the pathogenesis, clinical manifestation, genotype and recent research progress of the disease.
