| Literature DB >> 28259515 |
L Kuchar1, J Sikora2, M E Gulinello3, H Poupetova2, A Lugowska4, V Malinova5, H Jahnova2, B Asfaw2, J Ledvinova2.
Abstract
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.Entities:
Keywords: Lysosphingomyelin; Mass spectrometry; Niemann-Pick A/B; Niemann-Pick C; Screening; Sphingosylphosphorylcholine
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Year: 2017 PMID： 28259515 DOI： 10.1016/j.ab.2017.02.019
Source DB: PubMed Journal: Anal Biochem ISSN： 0003-2697 Impact factor: 3.365