Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases
Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases
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DOI：
10.1016/j.ab.2017.02.019
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发表时间：
2017-05-15
影响因子：
2.9
通讯作者：
Ledvinova, J.
中科院分区：
文献类型：
--
作者：
Kuchar, L.;Sikora, J.;Ledvinova, J.
酸性鞘磷脂酶缺乏症（ASMd，尼曼-匹克病A/B）和尼曼-匹克病C型（NPC）有共同的核心临床症状。因此，这两种罕见的溶酶体贮积病的初步诊断区分是困难的。随着鞘磷脂在ASMd和NPC中积累，溶鞘磷脂本文采用LC-ESI-MS/MS法同时测定血浆和干血斑中的溶血鞘磷脂和溶血鞘磷脂509从ASMd和NPC患者中收集，并表明两种分析物的血浆而不是DBS水平允许ASMd和NPC的差异生化筛查。(C)2017爱思唯尔公司All rights reserved.
Acid sphingomyelinase deficiency (ASMd, Niemann-Pick disease A/B) and Niemann-Pick type C disease (NPC) share core clinical symptoms. Initial diagnostic discrimination of these two rare lysosomal storage diseases is thus difficult. As sphingomyelin accumulates in ASMd as well as NPC, lysosphingomyelin (sphingosylphosphorylcholine) and its m/z 509 analog were suggested as biomarkers for both diseases.Herein we present results of simultaneous LC-ESI-MS/MS measurements of lysosphingomyelin and lysosphingomyelin 509 in plasma and dried blood spots (DBS) collected from ASMd and NPC patients and suggest that the plasma but not DBS levels of the two analytes allow differential biochemical screening of ASMd and NPC. (C) 2017 Elsevier Inc. All rights reserved.