New insights into therapeutic options for Pompe disease.

Abstract

Glycogen storage disease type II or Pompe disease (GSD II, MIM 232300) is a rare inherited metabolic myopathy caused by a deficiency of lysosomal acid α-glucosidase or acid maltase (GAA; EC 3.2.1.20), resulting in a massive lysosomal glycogen accumulation in cardiac and skeletal muscles. Affected individuals exhibit either severe hypotonia associated with hypertrophic cardiomyopathy (infantile forms) or progressive muscle weakness (late-onset forms). Even if enzyme replacement therapy has recently become a standard treatment, it suffers from several limitations. This review will present the main results of enzyme replacement therapy and the recent findings concerning alternative treatments for Pompe disease, such as gene therapy, enzyme enhancement therapy, and substrate reduction therapy.

• Authors: Emmanuel Richard, Gaëlle Douillard-Guilloux, Catherine Caillaud
• Journal: IUBMB life (IUBMB Life) Vol. 63 Issue 11 Pg. 979-86 (Nov 2011) ISSN: 1521-6551 [Electronic] England
• PMID: 22002928 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2011 Wiley Periodicals, Inc.

Chemical References

• Drug Carriers
• Enzyme Activators
• GAA protein, human
• alpha-Glucosidases

Topics

• Animals
• Drug Carriers
• Enzyme Activators (therapeutic use)
• Enzyme Replacement Therapy (adverse effects, methods)
• Genetic Therapy
• Glycogen Storage Disease Type II (enzymology, genetics, therapy)
• Humans
• Immune Tolerance
• Liver (drug effects, physiopathology)
• Muscles (drug effects, physiopathology)
• alpha-Glucosidases (genetics, immunology, therapeutic use)