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《Laboratory Medicine》 2019-12
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Role of tandem mass spectrometry for screening X-linked adrenoleukodystrophy

WANG Yanmin;TIAN Guoli;JI Wei;Neonatal Screening Center,Children's Hospital of Shanghai,Children's Hospital of Shanghai Jiaotong University;  
Objective To establish a tandem mass spectrometry(MS/MS) for the determinations of very long chain acylcarnitine(VLCAC) and lysophosphatidylcholine(LPC),and to evaluate the diagnostic efficiency of VLCAC and LPC in the diagnosis of X-linked adrenoleukodystrophy(X-ALD). Methods A total of 3 530 samples of dried blood spots for screening genetic metabolic diseases and 10 samples of dried blood spots from children with X-ALD were collected. VLCAC and LPC were extracted from dried blood spots by solvent extraction with standard substances containing stable isotopic markers of 2 H3-hexacosanoylcarnitine(2 H3-C26) and 2 H4-C26:0 lysophosphatidylcholine(2 H4-C26:0-LPC) direct injection in tandem mass spectrometer. Eicosanoylcarnitine(C20), docosanoylcarnitine(C22), tetracosanoylcarnitine(C24), hexacosanoylcarnitine(C26), C20:0 lysophosphatidylcholine(C20:0-LPC), C22:0 lysophosphatidylcholine(C22:0-LPC), C24:0 lysophosphatidylcholine(C24:0-LPC) and C26:0 lysophosphatidylcholine(C26:0-LPC) were detected. Methodological evaluation(precision,accuracy and linearity) of the established MS/MS was performed. Partial least square method was used to analyze the contribution of each index to disease. Receiver operating characteristic(ROC)curve was used to evaluate the ef?ciency of each index for the diagnosis of X-ALD. Results The withinrun coefficients of variation(CV) of low-concentration C26 and C26:0-LPC were 4.16% and 7.75%,and the between-run CV were 8.29% and 9.17%,respectively. The within-run CV of high-concentration C26 and C26:0-LPC were 5.57% and 8.68%,and the between-run CV were 7.45% and 8.11%,respectively. The accuracies were 93.25%-104.94%. The determination coefficients(r2) between the measured values of different dilution concentrations and the theoretical concentration were 0.996 and 0.994. Except for C20,C24:0-LPC/C20:0-LPC,C24:0-LPC/C22:0-LPC and C26:0-LPC/C20:0-LPC,the difference between control group and X-ALD group was statistically signi?cant(P0.05). C26,C26/C22 ratio and C26:0-LPC had the highest contribution to disease(the partial regression coef?cients were 0.175 3,0.130 0 and 0.079 2,respectively). ROC curve analysis showed that the sensitivity and speci?city of the ratios of C26 and C26/C22 in diagnosing X-ALD were all 100%,and the area under curve(AUC) was 1.0. The sensitivity,speci?city and AUC of C26:0-LPC were 100%,72.9% and 0.972,respectively. Conclusions Non-derivatized MS/MS has high precision and accuracy in detecting VLCAC and LPC. C26 may be a diagnostic marker of X-ALD.
【Fund】: 上海市科学技术委员会科研项目(18441905100);; 上海市重中之重临床重点专科建设项目(2017ZZ02019);; 上海市第四轮公共卫生三年行动计划重点学科建设项目(15GWZK0401);; 上海交通大学多学科交叉项目(YG2015QN27)
【CateGory Index】: O657.63;R725.9
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【Citations】
Chinese Journal Full-text Database 2 Hits
1 HAN Liu~*,NI Jun-jun,XIANG Ting,GAO Hui-yuan,LI Wei,WU Li-jun.* Key Laboratory of Structure-Based Drug Design & Discovery of Ministry of Education,Shenyang Pharmaceutical University,Shenyang 110016,China;Determination of the concentration of very long chain fatty acids in serum by liquid chromatographytandem mass spectrometry[J];中华检验医学杂志;2011-01
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【Co-citations】
Chinese Journal Full-text Database 3 Hits
1 Cai Yanna;Jiang Minyan;Peng Minzhi;Sheng Huiying;Lin Yunting;Liang Cuili;Li Xiuzhen;Chen Jing;Zhou Zhihong;Liu Li;Department of Genetics and Endocrinology,Guangzhou Women and Children's Medical Center;;Analysis of the relationship between the level of very long chain fatty acid and ABCD1 gene mutation in X-linked adrenaldystrophy patients[J];国际遗传学杂志;2018-02
2 HAN Liu~*,NI Jun-jun,XIANG Ting,GAO Hui-yuan,LI Wei,WU Li-jun.* Key Laboratory of Structure-Based Drug Design & Discovery of Ministry of Education,Shenyang Pharmaceutical University,Shenyang 110016,China;Determination of the concentration of very long chain fatty acids in serum by liquid chromatographytandem mass spectrometry[J];中华检验医学杂志;2011-01
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【Secondary Citations】
Chinese Journal Full-text Database 4 Hits
1 Wei Hong,Ying Yanqin,Liang Yan,Wang Guanghui,Luo Xiaoping.Department of Pediatrics,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei 430030;Establishment of GC-MS method for the determination of plasma very long fatty acid and clinical application[J];临床儿科杂志;2005-08
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