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

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. •Lyso-SPM is elevated approximately 5-fold in dried blood spots of patients with NPD-B.•Levels of lyso-SPM in patients with NPD-B are clearly distinguishable from normal controls.•Lyso-SPM is a potentially useful biomarker for the diagnosis and treatment of NPD-B.