Journal
ANALYTICAL BIOCHEMISTRY
Volume 525, Issue -, Pages 73-77Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ab.2017.02.019
Keywords
Lysosphingomyelin; Niemann-Pick A/B; Screening; Sphingosylphosphorylcholine; Mass spectrometry; Niemann-Pick C
Funding
- Charles University [PRVOUK-P24/LF1/3, Progres Q26, UNCE 204011/2012]
- Ministry of Health of the Czech Republic [AZV16-33923A/2016]
- [RVO-VFN64165/2012]
- [OPPK CZ.2.16/3.1.00/24012]
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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.
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