Literature DB >> 24418695

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

Wei-Lien Chuang1, Joshua Pacheco1, Samantha Cooper1, Margaret M McGovern2, Gerald F Cox1, Joan Keutzer1, X Kate Zhang3.   

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.
Copyright © 2013 Elsevier Inc. All rights reserved.

Entities:  

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

Mesh：

Substances：

Year:  2013        PMID： 24418695     DOI： 10.1016/j.ymgme.2013.11.012

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  27 in total

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