Abstract: Objective To explore the incidence and disease spectrum of neonatal inherited metabolic disorders (IMDs) in parts of Sichuan,so as to provide basis for determining the screening programs and making relevant policies by the government in future. Methods A total of 39 648 newborns in Sichuan were screened for IMDs by tandem mass spectrometry (non-derivative method),and the samples with abnormal initial screening results were recalled for reexamination.Those with abnormal reexamination results would be diagnosed by urine organic acid and gene analysis. Results A total of 39 648 newborns were screened,1 594(4.02%) of whom were abnormal in the initial screening.Eventually,9 kinds of 15 cases of IMDs were diagnosed,and the total positive predictive value was 1.05%,the total incidence was 1∶2 643.The confirmed diseases included 5 cases of short-chain acyl-CoA dehydrogenase deficiency(SCADD),2 cases of primary carnitine deficiency(PCD),2 cases of methylmalonic acidemia(MMA),1 case of propionic acidemia(PA),1 case of isovaleric acidemia(IVA),1 case of 2-methylbutyrylglycinuria(MBCD),1 case of 3-methylcrotonyl CoA carboxylase deficiency(MCCD),1 case of phenylalanine hydroxylase deficiency(PKU),1 case of neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD). Conclusion s There are many kinds of IMDs with higher incidence in parts of Sichuan,of which short-chain acyl-CoA dehydrogenase deficiency is the most common.Therefore,newborn screening by tandem mass spectrometry is of great significance for the early detection and diagnosis of IMDs.

Key words: tandem mass spectrometry, inherited metabolic disorders, newborn screening, congenital disease

摘要： 目的 了解四川省部分地区新生儿遗传代谢性疾病(IMDs)的发病率及病种情况,为确定筛查方案及政府制定相关政策提供依据。方法 采用串联质谱技术(非衍生法)对四川省部分地区39 648例新生儿进行遗传代谢病筛查,初筛异常样本召回复查,复查异常者送检尿有机酸及基因分析确诊。结果 共筛查新生儿39 648例,其中初筛异常1 594例,初筛阳性率为4.02%,最终确诊遗传代谢病9种共15例,总阳性预测值为1.05%,总发病率为1∶2 643。确诊病种包括短链酰基辅酶A脱氢酶缺乏症5例,原发性肉碱缺乏症2例,甲基丙二酸血症2例,丙酸血症1例,异戊酸血症1例,2-甲基丁酰甘氨酸尿症1例,3-甲基巴豆酰辅酶A羧化酶缺乏症1例,苯丙氨酸羟化酶缺乏症1例,Citrin缺乏致新生儿肝内胆汁淤积症1例。结论 四川省部分地区IMDs病种多样,发病率较高;短链酰基辅酶A脱氢酶缺乏症为本地区最常见的IMDs;串联质谱筛查对IMDs的早期发现及诊治具有非常重要的意义。

关键词: 串联质谱, 遗传代谢性疾病, 新生儿疾病筛查, 先天性疾病