A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.

Journal Article (Journal Article)

Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a lysosomal storage disease caused by deficiency of iduronate-2-sulfatase (IDS). A convenient single-step fluorometric microplate enzyme assay has been developed and validated for clinical diagnosis of MPS II using dried blood spots (DBS). The assay compared well with a recently reported digital microfluidic method, from which it was adapted. Results show that this DBS assay is robust and reproducible using both technologies.

Full Text

Duke Authors

Cited Authors

  • Tolun, AA; Graham, C; Shi, Q; Sista, RS; Wang, T; Eckhardt, AE; Pamula, VK; Millington, DS; Bali, DS

Published Date

  • March 2012

Published In

Volume / Issue

  • 105 / 3

Start / End Page

  • 519 - 521

PubMed ID

  • 22227323

Electronic International Standard Serial Number (EISSN)

  • 1096-7206

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2011.12.011


  • eng

Conference Location

  • United States