title: 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.
authors.affiliation: Genzyme Corporation, One The Mountain Road, Framingham, MA 01701, USA.
authors.forename: Helmut
authors.initials: H
authors.lastname: Kallwass
authors.forename: Cortney
authors.initials: C
authors.lastname: Carr
authors.forename: Joseph
authors.initials: J
authors.lastname: Gerrein
authors.forename: Mariah
authors.initials: M
authors.lastname: Titlow
authors.forename: Robert
authors.initials: R
authors.lastname: Pomponio
authors.forename: Deeksha
authors.initials: D
authors.lastname: Bali
authors.forename: Jian
authors.initials: J
authors.lastname: Dai
authors.forename: Priya
authors.initials: P
authors.lastname: Kishnani
authors.forename: Alison
authors.initials: A
authors.lastname: Skrinar
authors.forename: Deyanira
authors.initials: D
authors.lastname: Corzo
authors.forename: Joan
authors.initials: J
authors.lastname: Keutzer
mesh_terms: 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*
chemical_list: D065089:Glycoside Hydrolase Inhibitors; D007527:Isoenzymes; D006923:Hymecromone; C034888:4-methylumbelliferyl glucuronide; D000520:alpha-Glucosidases; D020909:Acarbose