Clinica Chimica Acta:对中国X链肾上腺白血病筛查中的超长链溶磷脂酰胆碱和乙酰胆碱类药物的评价

2020-04-13 MedSci原创 MedSci原创

有研究报道C24:0和c26:0 -肉碱和溶血磷脂酰胆碱升高可作为x连锁肾上腺脑白质营养不良(X-ALD)的诊断性生物标志物。

有研究报道C24:0和c26:0 -肉碱和溶血磷脂酰胆碱升高可作为x连锁肾上腺脑白质营养不良(X-ALD)的诊断性生物标志物。我们的目的是建立中国人群中超长链(VLC)酰基肉碱(C20-C26)和LPC的参考区间,评估有价值的生物标志物,并建立筛选X-ALD的检测板。

研究人员验证了基于FIA-MS / MS的VLC酰基肉碱和LPC定量方法,以确定7个X-ALD男孩,396个与年龄匹配的健康对照和3078个正常新生儿的干血斑中的浓度。 并临床上评估了这些代谢物对X-ALD的筛选性能。

建立了中国人群中VLC酰基肉碱、LPCs及其比值的参考区间,C26和c260 - lpc等代谢物在儿童和新生儿之间的参考区间存在显著差异。发现C24和C26、C26:0-LPC、C24/C22和C26/C22比值在鉴别X-ALD男孩方面比其他分析物有更好的表现。

研究表明,C26:0-LPC、C24、C26是儿童X-ALD筛查更有价值的三个生物标志物。某些生物标志物浓度的年龄相关性变化有助于X-ALD的准确筛查。

原始出处:

Guo-Li Tian,Feng Xu,Evaluation of a panel of very long-chain lysophosphatidylcholines and acylcarnitines for screening of X-linked adrenoleukodystrophy in China

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    2020-06-05 windight
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    2020-04-14 huagfeg
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    2020-04-14 grace5704