title: Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.
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.
authors.affiliation: Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic. Electronic address: ladislav.kuchar@lf1.cuni.cz.
authors.forename: L
authors.initials: L
authors.lastname: Kuchar
authors.affiliation: Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
authors.forename: J
authors.initials: J
authors.lastname: Sikora
authors.affiliation: Behavioral Core Facility, Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY, USA.
authors.forename: M E
authors.initials: ME
authors.lastname: Gulinello
authors.affiliation: Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
authors.forename: H
authors.initials: H
authors.lastname: Poupetova
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Lugowska
authors.affiliation: Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
authors.forename: V
authors.initials: V
authors.lastname: Malinova
authors.affiliation: Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
authors.forename: H
authors.initials: H
authors.lastname: Jahnova
authors.affiliation: Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
authors.forename: B
authors.initials: B
authors.lastname: Asfaw
authors.affiliation: Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
authors.forename: J
authors.initials: J
authors.lastname: Ledvinova
mesh_terms: D015415:Biomarkers / Q000097:blood*; D016022:Case-Control Studies; D002853:Chromatography, Liquid / Q000379:methods; D059788:Dried Blood Spot Testing / Q000379:methods; D006801:Humans; D052536:Niemann-Pick Disease, Type A / Q000097:blood* / Q000175:diagnosis; D052537:Niemann-Pick Disease, Type B / Q000097:blood* / Q000175:diagnosis; D052556:Niemann-Pick Disease, Type C / Q000097:blood* / Q000175:diagnosis; D010767:Phosphorylcholine / Q000031:analogs & derivatives* / Q000097:blood; D021241:Spectrometry, Mass, Electrospray Ionization / Q000379:methods; D013110:Sphingosine / Q000031:analogs & derivatives* / Q000097:blood; D053719:Tandem Mass Spectrometry / Q000379:methods
chemical_list: D015415:Biomarkers; C005356:sphingosine phosphorylcholine; D010767:Phosphorylcholine; D013110:Sphingosine
keywords: Lysosphingomyelin; Mass spectrometry; Niemann-Pick A/B; Niemann-Pick C; Screening; Sphingosylphosphorylcholine