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Mol Genet Metab. 2007 Apr;90(4):449-52. Epub 2007 Jan 31.

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

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1
Genzyme Corporation, One The Mountain Road, Framingham, MA 01701, USA.

Erratum in

  • Mol Genet Metab. 2007 Nov;92(3):285.

Abstract

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.

PMID:
17270480
DOI:
10.1016/j.ymgme.2006.12.006
[Indexed for MEDLINE]

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