Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.

Published

Journal Article

The enzymatic defect in Pompe disease is insufficient lysosomal acid alpha-glucosidase (GAA) activity which leads to lysosomal glycogen accumulation. We recently introduced a simple and reliable method to measure GAA activity in dried blood spots using Acarbose, a highly selective alpha-glucosidase inhibitor, to eliminate isoenzyme interference. Here we demonstrate that this method efficiently detects late-onset Pompe patients who are frequently misdiagnosed by conventional methods due to residual GAA activity in other tissue types.

Full Text

Duke Authors

Cited Authors

  • Kallwass, H; Carr, C; Gerrein, J; Titlow, M; Pomponio, R; Bali, D; Dai, J; Kishnani, P; Skrinar, A; Corzo, D; Keutzer, J

Published Date

  • April 2007

Published In

Volume / Issue

  • 90 / 4

Start / End Page

  • 449 - 452

PubMed ID

  • 17270480

Pubmed Central ID

  • 17270480

International Standard Serial Number (ISSN)

  • 1096-7192

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2006.12.006

Language

  • eng

Conference Location

  • United States