先天性代谢缺陷病(inborn errors of metabolism,IEMs)又称先天性遗传代谢病,指氨基酸、糖、脂肪、激素等数百种先天性代谢缺陷所致的疾病。此类疾病多为单基因遗传病,以常染色体隐性遗传最多见,少数为线粒体基因遗传病、常染色体显性遗传、X连锁隐性或显性遗传;是由于基因突变造成相关蛋白质结构或功能异常,引起酶或细胞膜功能异常,导致机体生化代谢紊乱,包括底物蓄积、旁路代谢物生成过多、生理活性物质减少等,进而出现一系列临床症 Inborn errors of metabolism (IEMs), also known as congenital genetic metabolic disease, refers to the amino acid, sugar, fat, hormones and other hundreds of congenital metabolic defects caused by the disease. Most of these diseases are single-gene inherited diseases, most often seen with autosomal recessive inheritance, a few are mitochondrial genetic diseases, autosomal dominant inheritance, X-linked recessive or dominant inheritance; mutations are caused by related protein structures or Abnormal function, causing enzyme or cell membrane dysfunction, leading to the body’s biochemical metabolic disorders, including the accumulation of substrates, excessive generation of metabolites by the bypass, the reduction of physiologically active substances, and then a series of clinical symptoms