Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.
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.
Kallwass
Helmut
H
Genzyme Corporation, One The Mountain Road, Framingham, MA 01701, USA.
Carr
Cortney
C
Gerrein
Joseph
J
Titlow
Mariah
M
Pomponio
Robert
R
Bali
Deeksha
D
Dai
Jian
J
Kishnani
Priya
P
Skrinar
Alison
A
Corzo
Deyanira
D
Keutzer
Joan
J
D020909:Acarbose / Q000494:pharmacology; D000328:Adult; D001800:Blood Specimen Collection / Q000379:methods; D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology; D005470:Fluorometry / Q000379:methods; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis*; D065089:Glycoside Hydrolase Inhibitors; D006801:Humans; D006923:Hymecromone / Q000031:analogs & derivatives / Q000378:metabolism; D007527:Isoenzymes / Q000097:blood; D013379:Substrate Specificity; D000520:alpha-Glucosidases / Q000097:blood*
D065089:Glycoside Hydrolase Inhibitors; D007527:Isoenzymes; D006923:Hymecromone; C034888:4-methylumbelliferyl glucuronide; D000520:alpha-Glucosidases; D020909:Acarbose