遗传代谢病又称先天代谢异常 ,是一组先天性人体生化紊乱所致的疾病 ,多数为酶缺陷所致 ,属单基因遗传。随着医学遗传学 ,特别是分子遗传学的发展和临床诊治水平的提高 ,越来越多的遗传代谢病已由“不治之症”变成“可治之症”1　治疗原则　　治疗的关键是尽早发现、尽快治疗。 Genetic metabolic disease, also known as congenital metabolic abnormalities, is a group of diseases caused by congenital human biochemical disorders, mostly due to enzyme defects, is a single-gene inheritance. With the development of medical genetics, especially molecular genetics and clinical diagnosis and treatment, more and more inherited metabolic diseases have changed from “incurable diseases” to “treatable ones.” 1 Therapeutic principles The key to treatment is as soon as possible Found, treatment as soon as possible.