Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots.

Published online

Journal Article

Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of unprocessed glycosaminoglycans (GAGs) that manifests with severe to mild skeletal and cardiopulmonary abnormalities. We have developed a modified microtiter plate-based enzyme activity assay using dried blood spots and a fluorescent substrate for measuring specific GALNS activity to identify patients with MPS IVA.

Full Text

Duke Authors

Cited Authors

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

Published Date

  • 2014

Published In

Volume / Issue

  • 1 /

Start / End Page

  • 461 - 464

PubMed ID

  • 27896123

Pubmed Central ID

  • 27896123

International Standard Serial Number (ISSN)

  • 2214-4269

Digital Object Identifier (DOI)

  • 10.1016/j.ymgmr.2014.10.004

Language

  • eng

Conference Location

  • United States