东莞地区串联质谱技术筛查遗传代谢病患儿的初步应用

The application of tandem mass spectrometry in screening sick children with inherited metabolic diseases in Dongguan area

目的探讨串联质谱技术在东莞地区筛查先天性遗传代谢病的应用价值,为先天性遗传代谢病的临床诊断提供实验室依据。方法采用干血滴滤纸片法将患儿血液标本滴于采血纸片形成血斑,自然风干后应用API3200串联质谱仪进行检测。结果在1206例遗传代谢病高危儿的检测中,筛查出高瓜氨酸血症12例,Citrin缺陷病4例,丙酸血症4例,戊二酸血症2例,高精氨酸血症3例,脂肪酸代谢异常6例(其中短链酰基辅酶A脱氢酶缺乏症2例,中短链酰基辅酶A脱氢酶缺乏症1例,极长链酰基辅酶A脱氢酶缺乏症1例,肉碱棕榈酰转移酶-Ⅱ缺乏症1例多种酰基辅酶A脱氢酶缺乏症1例),多种氨基酸代谢异常症2例,尿素循环障碍症2例,同型半胱氨酸尿症1例,高甲硫胺酸血症5例,苯丙酮尿症5例,高苯丙氨酸血症5例。结论串联质谱技术具有高效快捷并可实现标准化自动化操作等优点,在先天性遗传代谢病早期诊断方面有重要应用价值。

Objective To evaluate the value of tandem mass spectrometry in screening sick children with inherited metabolic diseases in Dongguan area,and to provide laboratory evidence for the clinical diagnosis of congenital hereditary metabolic diseases. Methods Dry blood spot method was used to prepare the blood spot,and the blood spot was detected by API3200 tandem mass spectrometry after natural air drying. Results 1206 cases of high-risk sick children with inherited metabolic diseases were screened by tandem mass spectrometry.There were 12 cases of high citrullinemia,4 cases of citrin deficiency disease,4 cases of propionic academia,2 cases of glutaric aciduria,3 cases of hyperarginemia,6 cases of fatty acid metabolism（including 2 cases of short chain acyl coenzyme A dehydrogenase deficiency,1 case of medium short chain acyl coenzyme A dehydrogenase deficiency,1 case of very long chain acyl coenzyme A dehydrogenase deficiency,1 case of carnitine palmitoyl transfer enzyme Ⅱ deficiency,and 1 case of multiple acyl coenzyme A dehydrogcnose deficiency）,2 cases of amino acid metabolic disorders,2 cases of urea cycle disorders,1 case of homocystinuria,5 cases of high methionine acidemia,5 cases of phenylketonuria,and 5 cases of high phenylalanine hyperlipidemia,respectively. Conclusion The tandem mass spectrometry has many advantages,such as high efficiency,fast,standardization and automation.There was important application value of tandem mass spectrometry technology in early diagnosis of inborn errors of metabolism.