title: Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.
abstract: Niemann-Pick disease type B (NPD-B) is caused by a partial deficiency of acid sphingomyelinase activity and results in the accumulation of lysosomal sphingomyelin (SPM) predominantly in macrophages. Notably, SPM is not significantly elevated in the plasma, whole blood, or urine of NPD-B patients. Here, we show that the de-acylated form of sphingomyelin, lyso-SPM, is elevated approximately 5-fold in dried blood spots (DBS) from NPD-B patients and has no overlap with normal controls, making it a potentially useful biomarker.
authors.affiliation: Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.
authors.forename: Wei-Lien
authors.initials: WL
authors.lastname: Chuang
authors.affiliation: Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.
authors.forename: Joshua
authors.initials: J
authors.lastname: Pacheco
authors.affiliation: Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.
authors.forename: Samantha
authors.initials: S
authors.lastname: Cooper
authors.affiliation: Department of Pediatrics, Stony Brook University School of Medicine, Stony Brook, New York, NY 11794-8111, USA.
authors.forename: Margaret M
authors.initials: MM
authors.lastname: McGovern
authors.affiliation: Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Cox
authors.affiliation: Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.
authors.forename: Joan
authors.initials: J
authors.lastname: Keutzer
authors.affiliation: Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA. Electronic address: Kate.Zhang@genzyme.com.
authors.forename: X Kate
authors.initials: XK
authors.lastname: Zhang
mesh_terms: D001773:Blood Cells / Q000737:chemistry*; D016022:Case-Control Studies; D059788:Dried Blood Spot Testing; D006801:Humans; D008247:Lysosomes / Q000378:metabolism / Q000473:pathology; D008264:Macrophages / Q000378:metabolism / Q000473:pathology; D052537:Niemann-Pick Disease, Type B / Q000097:blood* / Q000175:diagnosis / Q000473:pathology; D010767:Phosphorylcholine / Q000031:analogs & derivatives* / Q000302:isolation & purification; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency*; D013110:Sphingosine / Q000031:analogs & derivatives* / Q000302:isolation & purification
chemical_list: C005356:sphingosine phosphorylcholine; D010767:Phosphorylcholine; D013108:Sphingomyelin Phosphodiesterase; D013110:Sphingosine
keywords: Dried blood spot; Lyso-sphingomyelin; Niemann–Pick disease types A and B; Sphingomyelin