New Insights into Therapeutic Options for Pompe Disease

作者：Richard Emmanuel^*; Douillard Guilloux Gaelle; Caillaud Catherine

来源：IUBMB Life, 2011, 63(11): 979-986.

DOI：10.1002/iub.529

• lysosomal storage disease
• glycogenosis type II
• Pompe disease
• glycogen metabolism
• metabolic myopathy
• substrate reduction therapy
• pharmacological chaperone
• gene therapy

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 a-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.

• 出版日期2011-11