Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients

Mol Genet Metab. 2014 Feb;111(2):209-11. doi: 10.1016/j.ymgme.2013.11.012. Epub 2013 Dec 7.

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.

Keywords: Dried blood spot; Lyso-sphingomyelin; Niemann–Pick disease types A and B; Sphingomyelin.

MeSH terms

  • Blood Cells / chemistry*
  • Case-Control Studies
  • Dried Blood Spot Testing
  • Humans
  • Lysosomes / metabolism
  • Lysosomes / pathology
  • Macrophages / metabolism
  • Macrophages / pathology
  • Niemann-Pick Disease, Type B / blood*
  • Niemann-Pick Disease, Type B / diagnosis
  • Niemann-Pick Disease, Type B / pathology
  • Phosphorylcholine / analogs & derivatives*
  • Phosphorylcholine / isolation & purification
  • Sphingomyelin Phosphodiesterase / deficiency*
  • Sphingosine / analogs & derivatives*
  • Sphingosine / isolation & purification

Substances

  • sphingosine phosphorylcholine
  • Phosphorylcholine
  • Sphingomyelin Phosphodiesterase
  • Sphingosine