Journal
MOLECULAR GENETICS AND METABOLISM
Volume 90, Issue 4, Pages 449-452Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2006.12.006
Keywords
Pompe disease; glycogen storage disease type 2; diagnosis; lysosomal acid alpha-glucosidase; GAA; dried blood spots; enzyme assay; acarbose
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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 a-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. (c) 2007 Elsevier Inc. All rights reserved.
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