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二氢嘧啶酶(DHP)缺陷症是一种罕见的嘧啶降解代谢障碍性疾病，以二氢嘧啶尿为特征，具有高度的表型异质性，n DPYS为其致病基因，全球共有不到40例病例报道，尿气相色谱-质谱可筛查临床可疑的患者，基因测序为该病的主要确诊手段。现对该病的发病机制、临床表现、基因型特点及最新研究进展作一综述。n “,”Characterized by dihydropyrimidinuria, dihydropyrimidinase (DHP) deficiency refers to a rare disorder of pyrimidine degradation, with high phenotypic heterogeneity.The disease-causing gene is n 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.n