Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots.

Published online

Journal Article

Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase B (ARS-B) enzyme activity. It results in mild to severe multi-organ system failure from accumulation of undigested glycosaminoglycans (GAGs); dermatan sulfate and chondroitin-4-sulfate. We have developed a single-step enzyme assay using a fluorescent substrate and dried blood spots to measure ARS-B activity to identify disease patients. This assay is robust, reproducible, specific and convenient to perform.

Full Text

Duke Authors

Cited Authors

  • Ullal, AJ; Millington, DS; Bali, DS

Published Date

  • 2014

Published In

Volume / Issue

  • 1 /

Start / End Page

  • 465 - 467

PubMed ID

  • 27896124

Pubmed Central ID

  • 27896124

International Standard Serial Number (ISSN)

  • 2214-4269

Digital Object Identifier (DOI)

  • 10.1016/j.ymgmr.2014.10.005

Language

  • eng

Conference Location

  • United States