关键词: 串联质谱, 高危儿, 氨基酸, 酰基肉碱

Abstract: Objective To detect the level of amino acids and acyl carnitine in Liuzhou area by tandem mass spectrometry (MS/MS),and to understand the occurrence of genetic metabolic disease in children with high risk. Methods A total of 2 215 patients with high risk of hospitalization and outpatient service from January 2013 to December 2015 were selected,and their amino acids and carnitine levels were detected by tandem mass spectrometry.Screening positive children combined with clinical phenotype,further diagnosis was conducted by means of different detection analysis to determine the confirmed cases and follow-up treatment. Results In the 2 215 cases of high-risk infants,screening positive was 195 cases,accounting for 8.80%;the number of confirmed cases was 30(1.35%).Diagnosis of genetic metabolic disease in 14 of 30 children,of which the disease types of carnitine deficiency,Hitlin protein,and the main types of E-acid,and other types of diseases have emerged. Conclusion In the area of Liuzhou,inherited metabolic disease percentage and disease have certain incidence of Guangxi high risk infants,in the process of diagnosis and treatment of genetic in metabolic diseases high-risk infants,tandem mass spectrometry can be used as early screening and prevention in the community.

Key words: tandem mass spectrometry, high risk infants, amino acids, acyl carnitine