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Evaluation of a panel of very long-chain lysophosphatidylcholines and acylcarnitines for screening of X-linked adrenoleukodystrophy in China.
Clinica Chimica Acta ( IF 5 ) Pub Date : 2020-01-21 , DOI: 10.1016/j.cca.2020.01.016 Guo-Li Tian 1 , Feng Xu 2 , Kuan Jiang 3 , Yan-Min Wang 1 , Wei Ji 1 , Ying-Ping Zhuang 4
Clinica Chimica Acta ( IF 5 ) Pub Date : 2020-01-21 , DOI: 10.1016/j.cca.2020.01.016 Guo-Li Tian 1 , Feng Xu 2 , Kuan Jiang 3 , Yan-Min Wang 1 , Wei Ji 1 , Ying-Ping Zhuang 4
Affiliation
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.
更新日期：2020-01-22
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