Abstract：Objective To explore the application value of tandem mass spectrometry in screening high-risk infants with inherited metabolic disorder (IMD) in Kashi Area of Xinjiang. Methods The blood samples of 321 suspected IMD high risk infants in Kashi Area from March 2017 to December 2018 were collected by dry blood paper method. API3000 tandem mass spectrometer was used for detection, the concentrations of amino acids and acyl carnitine in blood samples were calculated, and the IMD types distribution, age distribution, and clinical manifestations of IMD positive children were analyzed. Results Among 321 suspected IMD high risk infants, 17 were positive, the total positive rate of screening was 5.30% (17/321). There were 6 cases occurred in 24 hours old to 1 month old, 8 cases in 1 month old to 1 year old, 2 cases in 1 year old to 4 years old, and 1 cases in 4 years old to 12 years old; the main clinical manifestations of children with onset at 24 hours old to 1 month old were intermittent convulsions, faint from fear, or psychobehavioral reactions, and so on; the main manifestations of children with onset at 1 month old to 4 years old were growth retardation and feeding difficulties; the main manifestations of children with onset at 4 to 12 years old were anemia of unexplained anemia and enlargement of liver and spleen. Conclusion The incidence of IMD in Kashi Area is complex, involving all age groups, and the application of tandem mass spectrometry is conducive to the early screening and diagnosis of IMD.
谢金水 陈小娜 毛莲 赵青. 串联质谱技术在喀什地区遗传代谢病高危儿筛查中的应用价值[J]. 中国医药导报, 2019, 16(32): 91-94.
XIE Jinshui CHEN Xiaona MAO Lian ZHAO Qing. Application value of tandem mass spectrometry in screening high-risk infants with inherited metabolic diseases in Kashi Area. 中国医药导报, 2019, 16(32): 91-94.
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2019, Vol. 16 
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