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

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• 作者：Wei-Lien Chuang ; Joshua Pacheco ; Samantha Cooper ; Margaret M. McGovern ; Gerald F. Cox ; Joan Keutzer ; X. Kate Zhang
• 关键词：Dried blood spot ; Lyso-sphingomyelin ; Niemann&ndash ; Pick disease types A and B ; Sphingomyelin
• 刊名：Molecular Genetics and Metabolism
• 出版年：February, 2014
• 年：2014
• 卷：111
• 期：2
• 页码：209-211
• 全文大小：219 K

文摘

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.