Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases
Language English Country United States Media print-electronic
Document type Comparative Study, Journal Article
PubMed
28259515
DOI
10.1016/j.ab.2017.02.019
PII: S0003-2697(17)30099-4
Knihovny.cz E-resources
- Keywords
- Lysosphingomyelin, Mass spectrometry, Niemann-Pick A/B, Niemann-Pick C, Screening, Sphingosylphosphorylcholine,
- MeSH
- Biomarkers blood MeSH
- Chromatography, Liquid methods MeSH
- Phosphorylcholine analogs & derivatives blood MeSH
- Spectrometry, Mass, Electrospray Ionization methods MeSH
- Humans MeSH
- Niemann-Pick Disease, Type A blood diagnosis MeSH
- Niemann-Pick Disease, Type B blood diagnosis MeSH
- Niemann-Pick Disease, Type C blood diagnosis MeSH
- Sphingosine analogs & derivatives blood MeSH
- Case-Control Studies MeSH
- Tandem Mass Spectrometry methods MeSH
- Dried Blood Spot Testing methods MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Comparative Study MeSH
- Names of Substances
- Biomarkers MeSH
- Phosphorylcholine MeSH
- Sphingosine MeSH
- sphingosine phosphorylcholine MeSH Browser
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.
References provided by Crossref.org
Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency
ORMDL2 Deficiency Potentiates the ORMDL3-Dependent Changes in Mast Cell Signaling
Consensus clinical management guidelines for Niemann-Pick disease type C
