新疆地区新生儿遗传代谢病串联质谱检测氨基酸和酰基肉碱正常值参考范围的确立  

Establishment of the reference range of amino acids and acylcarnitine detected by tandem mass spectrometry for inherited metabolic diseases in Xinjiang

作　　者：朱静潆 韩丽 冯子奕 杨苹靖文 薛淑媛 ZHU Jingying;HAN Li;FENG Ziyi;YANG Pingjingwen;XUE Shuyuan(Prenatal Diagnosis Center,Urumqi Maternal and Child Healthcare Hospital,Urumqi,Xinjiang 830000,China)

机构地区：[1]乌鲁木齐市妇幼保健院产前诊断中心,新疆乌鲁木齐市830000

出　　处：《中国优生与遗传杂志》2023年第8期1551-1556,共6页Chinese Journal of Birth Health & Heredity

基　　金：新疆维吾尔自治区自然科学基金(2020D01A26)。

摘　　要：目的 建立新疆地区新生儿遗传代谢病串联质谱筛查中氨基酸和酰基肉碱的正常值参考范围,为本地区新生儿遗传代谢病筛查结果的判读提供理论依据。方法 利用串联质谱非衍生化法检测试剂盒,对新疆地区符合筛查标准的33776例新生儿进行多种遗传代谢病筛查。利用SPSS 23.0软件进行统计分析,采用百分位数法计算新疆地区11种氨基酸和31种酰基肉碱的正常值参考范围(P0.5~P99.5);并采用Wilcoxon秩和检验与上海新华医院的正常值参考范围比较差异。结果 33776例新生儿的串联质谱筛查结果数据呈非正态分布,采用百分位数法(P0.5~P99.5)得到新疆地区正常新生儿氨基酸及酰基肉碱串联质谱检测指标参考范围(μmol/L);新疆地区与上海新华医院参考范围的上下限进行比较,结果显示丙氨酸(ALA)、瓜氨酸(CIT)、甘氨酸(GLY)、亮氨酸(LEU)、鸟氨酸(ORN)、戊二酰基肉碱+3-羟基-己酰基肉碱(C5DC+C6OH)等检测指标的上下限均差异显著(P<0.05)。结论 新疆地区串联质谱氨基酸、酰基肉碱正常值参考范围的建立,为筛查结果的分析提供了理论依据,并且随着数据的逐步积累,应定期对其进行相应的调整。Objective To establish the normal reference range of amino acids and acylcarnitine in tandem mass spec-trometry screening of neonatal inherited metabolic diseases in Xinjiang,and provide a theoretical basis for the screening re-sults of neonatal inherited metabolic diseases in this region.Methods The Non-derivatized tandem mass spectrometry kit was used to screen 33776 newborns who met the screening criteria in Xinjiang for inherited metabolic diseases.SPSS software was used for statistical analysis.The reference range of normal values of 11 amino acids and 31 acylcarnitine in Xinjiang was cal-culated by percentile method(P 0.5‒P 99.5).Wilcoxon rank sum test was used to compare the difference with the normal value reference range of Shanghai Xinhua Hospital.Results The data of tandem mass spectrometry screening results of 33776 new-borns showed a non-normal distribution.The reference range of amino acid and acylcarnitine tandem mass spectrometry de-tection indicators of normal newborns in Xinjiang was obtained by percentile method(P 0.5‒P 99.5)(μmol/L).Comparing the reference range between Xinjiang and Shanghai Xinhua Hospital,it was found that there were significant differences in the detection indicators of alanine(ALA),citrulline(CIT),glycine(GLY),leucine(LEU),ornithine(ORN),glutaryl car-nitine+3-hydroxyhexanoylcarnitine(C5DC+C6OH)(P<0.05).Conclusion The establishment of the normal reference range of amino acids and acylcarnitine in Xinjiang provides a theoretical basis for the analysis of screening results,and should be ad-justed regularly with the gradual accumulation of data.

关 键 词：遗传代谢病 串联质谱技术 氨基酸 酰基肉碱 参考范围 

分 类 号：R722.1[医药卫生—儿科]