【摘要】 目的:建立河南省新生儿干血斑中氨基酸含量的正常值参考区间。方法:采用非衍生化串联质谱法对河南省22 811例新生儿进行遗传代谢病筛查,统计筛查阳性率,使用SPSS19.0软件对氨基酸含量进行统计分析。结果:筛查阳性率为0.12%,新生儿遗传代谢病检测指标正常值参考区间(P0.5～P99.5)分别为缬氨酸(VAL) 46.1～253.5μmol/L、酪氨酸(TYR)12.5～269.4μmol/L、苯丙氨酸(PHE)21.4～98.6μmol/L、蛋氨酸(MET)4.9～35.5μmol/L、亮氨酸(LEU)58.3～331.1μmol/L、甘氨酸(GLY)84.6～1180.6μmol/L、瓜氨酸(CIT)4.4～32.7μmol/L、精氨酸(ARG)0.7～47.4μmol/L、丙氨酸(ALA)130.9～811.2μmol/L、鸟氨酸(ORN)34.7～334.1μmol/L、脯氨酸(PRO)73.2～386.8μmol/L。结论:建立了河南省新生儿干血斑中11种氨基酸正常值参考区间,为遗传代谢病实验室筛查提供参考依据。更多还原

【Abstract】 Objective: Establishment of the reference range of amino acid and carnitine contents indry blood spots from neonates in henan region. Methods: A non-derivative Amino Acids Tandem Mass Spectrometry Kit was used for screening 22 811 samples for neonatal inherited metabolic disease in henan province. SPSS19.0 was used for statistical analysis according to 99.5% reference interval. Results: The normal reference value(μmol/L)of neonatal inherited metabolic disease were: VAL46.09-253.50, TYR12.47-269.44, PHE21.35-98.61, MET4.92-35.48, LEU58.30-331.11, GLY84.56-1180.56, CIT4.43-32.70, ARG0.68-47.35, ALA130.86-811.17, ORN34.73-334.14, PRO73.18-386.80. Conclusion:The establishment of the normal reference range of 11 amino acids in neonatal dry blood spot in Henan Province, will provide theoretical basis for laboratory diagnosis of inherited metabolic disease screening in this area.更多还原