4819例遗传代谢病检测结果分析

目的 为了解遗传代谢病的发病率,以便推动遗传代谢病的全面筛查,应用液相色谱-串联质谱(liquid chromatography-tandem mass spectrometry,LC-MS/MS)检测血氨基酸和酰基肉碱,联合气相色谱-串联质谱(gas chromatography-tandem mass spectrometry,GC-MS)技术检测尿液中有机酸,对氨基酸、有机酸代谢病及脂肪酸β氧化障碍进行筛查和诊断.方法 收集4819例(包括1388例新生儿及3431例疑似遗传代谢病高危儿童)血氨基酸和酰基肉碱检测结果及尿有机酸检测结果,分别利用LC-MS/MS检测了4778例干滤纸片和GC-MS检测了3004例尿标本.结果 通过遗传代谢病筛查共确诊88例(占所检测样本的1.83%,这88例均行LC-MS/MS和GC-MS检测),其中氨基酸代谢病9种,37例;有机酸代谢病7种,40例;脂肪酸β氧化障碍5种,11例.结论 联合LC-MS/MS及GC-MS能快速对遗传代谢病进行筛查和诊断.

Analysis of the clinical measurement on 4819 cases of genetic metabolic diseases

Objective To screen and diagnose genetic metabolic diseases (including amino acid diseases, organic academia, fatty acids disorders), amino acids and acylcarnitine were measured with liquid chromatography-tandem mass spectrometry (LC-MS/MS) and organic acids were tested by gas chromatography-tandem mass spectrometry (GC-MS).Methods We collected 4819 samples (including 1388 cases of neonate and 3431 cases of children with high risk of genetic metabolic diseases) and analyzed 4778 LC-MS/MS data of plasma amino acids and acylcarnitine and 3004 GC-MS data of urinary organic acids.Results Eighty-eight cases (1.83%) were diagnosed as genetic metabolic diseases tested with both LC-MS/MS and GC-MS, which include 37 cases with 9 kinds of amino acid diseases, 40 cases with 7 kinds of organic acidemia and 11 cases with 5 kinds of fatty acids disorder, respectively.Conclusion Combination of LC-MS/MS with GC-MS can rapidly screen and diagnose genetic metabolic diseases.