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

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

Molecular genetics and metabolism (2014-01-15)
Wei-Lien Chuang, Joshua Pacheco, Samantha Cooper, Margaret M McGovern, Gerald F Cox, Joan Keutzer, X Kate Zhang
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.

MATERIALS
Product Number
Brand
Product Description

Avanti
Lyso SM-d7, Avanti Research - A Croda Brand 860639P, powder
Avanti
Lyso SM (d17:1), Avanti Research - A Croda Brand 860656P, powder