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