摘要
目的制定符合郑州市出生新生儿的氨基酸和酰基肉碱参考区间,为诊断氨基酸代谢病、脂肪酸β氧化障碍、有机酸代谢病提供依据,为评价氨基酸和肉碱营养状态提供基础数据。方法利用非衍生化串联质谱法对2016年8月至2019年9月在郑州市出生的足月新生儿61199例足跟血样本中氨基酸和酰基肉碱进行检测,通过SPSS 19.0软件,单样本Kolmogorov-Smirnov检验判断数据是否符合正态分布,根据是否符合正态分布来确定参考范围区间。结果郑州市新生儿遗传代谢病筛查11种氨基酸和31种肉碱为非正态分布,95%参考区间分别为(μmol·L^-1):丙氨酸(Ala)(191.973~525.634),精氨酸(Arg)(1.091~31.615),瓜氨酸(Cit)(8.509~26.006),甘氨酸(Gly)(292.654~936.183),亮氨酸(Leu+Ile)(112.876~292.379),蛋氨酸(Met)(11.488~36.253),鸟氨酸(Orn)(53.421~213.755),苯丙氨酸(Phe)(40.067~92.042),脯氨酸(Pro)(126.468~329.280),酪氨酸(Tyr)(55.688~244.478),缬氨酸(Val)(95.491~244.857),游离肉碱(C0)(10.218~38.323),乙酰基肉碱(C2)(8.594~38.262),丙酰基肉碱(C3)(0.703~3.918),丙二酰基肉碱(C3DC/C4OH)(0.036~0.248),丁酰基肉碱(C4)(0.092~0.332),甲基丙二酰基肉碱(C4DC/C5OH)(0.159~0.472),异戊酰基肉碱(C5)(0.057~0.257),甲基巴豆酰基肉碱(C5∶1)(0.002~0.049),戊二酰基肉碱(C5DC/C6OH)(0.054~0.227),己酰基肉碱(C6)(0.018~0.077),己二酰基肉碱(C6DC)(0.016~0.043),辛酰基肉碱(C8)(0.036~0.157),辛烯酰基肉碱(C8∶1)(0.049~0.241),癸酰基肉碱(C10)(0.034~0.182),癸烯酰基肉碱(C10∶1)(0.028~0.149),癸二烯酰基肉碱(C10∶2)(0.005~0.095),十二烷酰基肉碱(C12)(0.026~0.207),十二烯酰基肉碱C12∶1(0.013~0.150),十四烷酰基肉碱(C14)(0.070~0.316),十四烯酰基肉碱(C14∶1)(0.032~0.249),十四二烯酰基肉碱(C14∶2)(0.006~0.058),3-羟基十四烷酰基肉碱(C14OH)(0.004~0.030),十六烷酰基肉碱(C16)(0.802~5.460),十六烯酰基肉碱(C16∶1)(0.037~0.334),3-羟基十六烷酰基肉碱(C16OH)(0.007~0.053),3-羟基十六烯酰基肉碱(C16∶1OH)(0.014~0.061),十八烷酰基肉碱(C18)(0.301~1.290),十八烯酰基肉碱(C18∶1)(0.575~2.071),十八二烯酰基肉碱(C18∶2)(0.077~0.481),3-羟基十八烷酰基肉碱(C18OH)(0.003~0.024),3-羟基十八烯酰基肉碱(C18∶1OH)(0.007~0.032)。结论非衍生化法测定干血斑中氨基酸和酰基肉碱浓度,建立合理参考区间,可为郑州市新生儿群体筛查提供参考依据,更好地促进郑州市群体筛查的管理。
Objective To establish the reference range of amino acids and acyl carnitine for newborn babies born in Zhengzhou,to provide the basis for the diagnosis of amino acid metabolic disease,fatty acid beta-oxidation disorder,organic acid metabolic disease,and the basic data for the evaluation of amino acid,carnitine nutritional status.Methods The amino acids and acyl carnitine were detected in 61199 full term newborns born in Zhengzhou from August 2016 to September 2019 by using non-derivative tandem mass spectrometry.The data were determined by using SPSS 19.0 software and the single sample Kolmogorov-Smirnov.The reference range was determined according to whether it conformed to the normal distribution.Results Eleven kinds of amino acids and 31 kinds of carnitine were screened for neonatal genetic metabolic disease in Zhengzhou,and 95%of the reference intervals were(μmol·L^-1):Ala(191.973 to 525.634),Arg(1.091 to 31.615),Cit(8.509 to 26.006),Gly(292.654 to 936.183),Leu+Ile(112.876 to 292.379),Met(11.488 to 36.253),Orn(53.421 to 213.755),Phe(40.067 to 92.042),Pro(126.468 to 329.280),Tyr(55.688 to 244.478),Val(95.491 to 244.857),C0(10.218 to 38.323),C2(8.594 to 38.262),C3(0.703 to 3.918),C3 DC/C4 OH(0.036 to 0.248),C4(0.092 to 0.332),C4 DC/C5 OH(0.159 to 0.472),C5(0.057 to 0.257),C5∶1(0.002 to 0.049),C5 DC/C6 OH(0.054 to 0.227),C6(0.018 to 0.077),C6 DC(0.016 to 0.043),C8(0.036 to 0.157),C8∶1(0.049 to 0.241),C10(0.034 to 0.182),C10∶1(0.028 to 0.149),C10∶2(0.005 to 0.095),C12(0.026 to 0.207),C12∶1(0.013 to 0.150),C14(0.070 to 0.316),C14∶1(0.032 to 0.249),C14∶2(0.006 to 0.058),C14 OH(0.004 to 0.030),C16(0.802 to 5.460),C16∶1(0.037 to 0.334),C16 OH(0.007 to 0.053),C16∶1 OH(0.014 to 0.061),C18(0.301 to 1.290),C18∶1(0.575 to 2.071),C18∶2(0.077 to 0.481),C18 OH(0.003 to 0.024),C18∶1 OH(0.007 to 0.032).Conclusion The concentration of amino acid and acyl carnitine in dry blood spots is determined by non-derivative method,a reasonable reference interval is established to provide reference basis for the screening of newborn population in Zhengzhou and better promote the management of population screening in Zhengzhou.
作者
王雪侠
党晨滢
WANG Xue-xia;DANG Chen-ying(Clinical Laboratory,Women&infants Hospital of Zhengzhou,Zhengzhou 453001,China)
出处
《河南医学研究》
CAS
2020年第20期3658-3661,共4页
Henan Medical Research
关键词
新生儿
筛查
串联质谱
非衍生化法
参考区间
newborn
screening
tandem mass spectrometry
non-derivative method
reference range
