Evaluation of a panel of very long-chain lysophosphatidylcholines and acylcarnitines for screening of X-linked adrenoleukodystrophy in China

被引：8
作者：
Tian, Guo-Li [1 ]
Xu, Feng [2 ]
Jiang, Kuan [3 ]
Wang, Yan-Min [1 ]
Ji, Wei [1 ]
Zhuang, Ying-Ping [4 ]
机构：
[1] Shanghai Jiao Tong Univ, Childrens Hosp Shanghai, Neonatal Screening Ctr, Shanghai, Peoples R China
[2] East China Univ Sci & Technol, Sch Biotechnol, 130 Meilong Rd, Shanghai 200237, Peoples R China
[3] PerkinElmer Inc, Suzhou Symbio Life Sci Co Ltd, Taicang, Peoples R China
[4] East China Univ Sci & Technol, State Key Lab Bioreactor Engn, Shanghai, Peoples R China
来源：
CLINICA CHIMICA ACTA | 2020年 / 503卷
关键词：
X-linked adrenoleukodystrophy; C26:0-carnitine; Chinese ALD screening; C26:0-lysophosphatidylcholine; Reference interval; Cut-off value; DRIED BLOOD SPOTS; DIAGNOSTIC MARKERS; C26/0-LYSOPHOSPHATIDYLCHOLINE; C26/0-CARNITINE;
D O I：
10.1016/j.cca.2020.01.016
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
Background Elevated blood C24:0- and C26:0-carnitines and lysophosphatidylcholines (LPCs) were reported as diagnostic biomarkers for X-linked adrenoleukodystrophy (X-ALD). Our aim was to establish the reference intervals of very long-chain (VLC) acylcarnitines (C20-C26) and LPCs in Chinese population, and evaluate valuable biomarkers and develop panel for screening X-ALD in China. Methods: The method of FIA-MS/MS-based quantification of VLC acylcarnitines and LPCs was validated in order to determine their concentrations in dried blood spots from 7 X-ALD boys, 396 age-matched healthy controls, and 3078 putative normal newborns. Screening performance of these metabolites for X-ALD was clinically evaluated. Results: The reference intervals of VLC acylcarnitines, LPCs and their ratios were established in Chinese population, and for some metabolites like C26 and C26:0-LPC, the reference intervals were found to be significantly different between children and newborns. C24 and C26, C26:0-LPC, C24/C22 and C26/C22 ratios were found to have better performance than other analytes to identify X-ALD boys from normal children. Conclusion: C26:0-LPC, C24 and C26 are three most valuable biomarkers for screening of X-ALD in children group. The information of age-related variations in concentration of some biomarkers is helpful for accurate screening of X-ALD.
引用
收藏
页码：157 / 162
页数：6
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