先天性遗传性代谢缺陷(inborn errors of metabolism,IEMs)是由于基因改变导致某种酶或蛋白质的功能发生质和(或)量的改变,从而引起某种或某些代谢途径的生化物质发生变化而产生的一系列疾病。目前已发现并确认的人类IEMs疾病有500余种[1],在活产儿中的累积发病率达3/1 000[1-2]。IEMs在临床上可表现为急性代谢危象特征或呈涉及单个或多个系统组织器官的进行性、复发性或持 Inborn errors of metabolism (IEMs) are changes in the amount and / or amount of a certain enzyme or protein that result from genetic alterations that cause changes in the biochemicals of one or more of the metabolic pathways The resulting series of diseases. More than 500 different types of human IEMs have been identified and identified [1], with a cumulative incidence of 3/1 000 in live births [1-2]. IEMs can be clinically characterized as acute metabolic crisis or as progressive, recurrent or persistent disease involving single or multiple systemic tissues and organs