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

Mol Genet Metab. 2007 Apr;90(4):449-52. doi: 10.1016/j.ymgme.2006.12.006. Epub 2007 Jan 31.

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.

MeSH terms

  • Acarbose / pharmacology
  • Adult
  • Blood Specimen Collection / methods
  • Cells, Cultured
  • Fibroblasts / enzymology
  • Fluorometry / methods
  • Glycogen Storage Disease Type II / diagnosis*
  • Glycoside Hydrolase Inhibitors
  • Humans
  • Hymecromone / analogs & derivatives
  • Hymecromone / metabolism
  • Isoenzymes / blood
  • Substrate Specificity
  • alpha-Glucosidases / blood*

Substances

  • Glycoside Hydrolase Inhibitors
  • Isoenzymes
  • Hymecromone
  • 4-methylumbelliferyl glucuronide
  • alpha-Glucosidases
  • Acarbose