目的运用串联质谱技术(MS/MS)检测柳州地区临床高危儿氨基酸及酰基肉碱水平,了解本地区临床高危患儿群体遗传代谢疾病的发生情况。方法选取2013年1月-2015年12月本院住院及门诊高危患儿共2 215例,串联质谱分别检测其氨基酸及肉碱水平。初筛阳性患儿结合临床表型,进一步经不同确诊手段检测分析后,确定确诊病例,并进行随访治疗。结果在2 215例高危儿的检测结果中,初筛阳性为195例,占8.80%;确诊例数为30例为1.35%。确诊遗传代谢病14种共计30例患儿,其中疾病种类以肉碱缺乏症、希特林蛋白血症、戊二酸血症Ⅰ型为主,其余类型病种均有出现。结论在广西柳州地区高危儿群体,遗传代谢疾病的比例及病种均有一定发生率,在高危儿遗传代谢疾病的诊疗过程中,运用串联质谱技术可以针对该群体进行早期筛查与疾病预防。 Objective To detect the levels of amino acids and acylcarnitines in clinically high-risk infants in Liuzhou by tandem mass spectrometry (MS / MS) and to understand the prevalence of genetic metabolic diseases in clinically high-risk children in this area. Methods A total of 2 215 in-hospital and outpatient high-risk infants in our hospital from January 2013 to December 2015 were enrolled. Amino acid and carnitine levels were detected by tandem mass spectrometry. Positive screening of children with clinical phenotype, further confirmed by different means of detection and analysis to determine the confirmed cases, and follow-up treatment. Results Among 21 215 high-risk infants, 195 were initially screened, accounting for 8.80%; the number of confirmed cases was 1.35% in 30 cases. Confirmed 14 cases of genetic metabolic disease in a total of 30 cases of children, including the types of diseases with carnitine deficiency, Hedlin proteinosis, glutaric acid type Ⅰ-based, the remaining types of diseases have emerged. Conclusion In the high risk infants population in Liuzhou area of ​​Guangxi, there are some cases of the proportion and types of genetic metabolic diseases. In the process of diagnosis and treatment of genetic metabolic diseases in high risk infants, the tandem mass spectrometry technique can be used for early screening and disease prevention.