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Updated: May 11, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Late-onset Pompe's disease.

James W Teener1

  • 1Department of Neurology, University of Michigan Health System, Ann Arbor, Ann Arbor, MI 48109-5036, USA. jteener@med.umich.edu

Seminars in Neurology
|May 17, 2013
PubMed
Summary
This summary is machine-generated.

Pompe disease, a glycogen storage disorder, stems from acid α-glucosidase deficiency. Enzyme replacement therapy shows significant benefits for infantile cases and stabilization for late-onset Pompe disease.

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Glycogen storage disease type II (Pompe disease) results from acid α-glucosidase deficiency.
  • Infantile Pompe disease presents with severe multiorgan involvement, while late-onset forms manifest as myopathy.

Purpose of the Study:

  • To review the current understanding of Pompe disease.
  • To discuss the efficacy of enzyme replacement therapy (ERT).

Main Methods:

  • Literature review on Glycogen storage disease type II.
  • Analysis of treatment outcomes for recombinant acid α-glucosidase infusion.

Main Results:

  • Recombinant acid α-glucosidase infusion significantly improves infantile Pompe disease.
  • Modest improvement or stabilization is observed in late-onset Pompe disease patients.

Conclusions:

  • Enzyme replacement therapy is a viable treatment for Pompe disease.
  • Treatment efficacy varies between infantile and late-onset forms.