The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.


Journal Article (Review)

Dried blood spot (DBS) methods are currently available for identification of a range of lysosomal storage disorders (LSDs). These disorders are generally characterized by a deficiency of activity of a lysosomal enzyme and by a broad spectrum of phenotypes. Diagnosis of LSD patients is often delayed, which is of particular concern as therapeutic outcomes (e.g. enzyme replacement therapy) are generally more favorable in early disease stages. Experts in the field of LSDs diagnostics and screening programs convened and reviewed experiences with the use of DBS methods, and discuss the diagnostic challenges, possible applications and quality programs in this paper. Given the easy sampling and shipping and stability of samples, DBS has evident advantages over other laboratory methods and can be particularly helpful in the early identification of affected LSD patients through neonatal screening, high-risk population screening or family screening.

Full Text

Duke Authors

Cited Authors

  • Reuser, AJ; Verheijen, FW; Bali, D; van Diggelen, OP; Germain, DP; Hwu, W-L; Lukacs, Z; Mühl, A; Olivova, P; Piraud, M; Wuyts, B; Zhang, K; Keutzer, J

Published Date

  • September 2011

Published In

Volume / Issue

  • 104 / 1-2

Start / End Page

  • 144 - 148

PubMed ID

  • 21831684

Pubmed Central ID

  • 21831684

Electronic International Standard Serial Number (EISSN)

  • 1096-7206

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2011.07.014


  • eng

Conference Location

  • United States