遗传性代谢病(inherited metabolic disorders,IMD)又称先天性代谢缺陷(inborn errors of metabolism,IEM),是由于参与体内代谢的某种酶、运载蛋白、膜或受体等的编码基因发生突变,从而导致机体生化代谢紊乱,造成中间、旁路代谢产物蓄积,或终末代谢产物缺乏,引起一系列临床症状的一组疾病[1-2]。IMD多为常染色体隐性遗传,少数为 Inherited metabolic disorders (IMD), also known as inborn errors of metabolism (IEM), are caused by mutations in the coding genes of some enzymes involved in metabolism, such as carrier proteins, membranes or receptors, Resulting in metabolic disorders of the body, resulting in the middle, by-pass metabolite accumulation, or lack of terminal metabolites, a series of clinical symptoms caused by a group of diseases [1-2]. IMD mostly autosomal recessive, a few