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遗传性代谢病(inherited metabolic d isorders,IMD)即先天性代谢缺陷(Inborn errors of metabo-lism,IEM),许多种类都是在人生第一阶段即新生儿期内起病。IMD种类繁多,共同的发病率约为1/1500人,在一个新生儿医生的职业生涯中可能不会遇到某些极为罕见的IMD,但几乎所有的新生
An inherited metabolic disease (IMD) is an inborn errors of metabo-lism (IEM), many of which occur during the first phase of life, the neonatal period. With a wide range of IMDs and a common incidence of about 1 in 1500, there may not be some very rare IMDs in the career of a new-born doctor, but almost all freshmen