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

  title={Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.},
  author={Wei-Lien Chuang and Joshua Pacheco and Samantha E Cooper and Margaret M. McGovern and Gerald F. Cox and Joan Keutzer and Xiaokui Kate Zhang},
  journal={Molecular genetics and metabolism},
  volume={111 2},
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… CONTINUE READING