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

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.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

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

doi

10.1016/j.ymgme.2006.12.006

subject

Has Abstract

pub_date

2007-04-01 00:00:00

pages

449-52

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(06)00389-1

journal_volume

90

pub_type

杂志文章

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