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New insights into therapeutic options for Pompe disease
Author(s) -
Richard Emmanuel,
DouillardGuilloux Gaëlle,
Caillaud Catherine
Publication year - 2011
Publication title -
iubmb life
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.132
H-Index - 113
eISSN - 1521-6551
pISSN - 1521-6543
DOI - 10.1002/iub.529
Subject(s) - enzyme replacement therapy , glycogen storage disease type ii , substrate reduction therapy , hypotonia , hypertrophic cardiomyopathy , medicine , disease , myopathy , genetic enhancement , glycogen storage disease , glycogen , muscle hypotonia , muscle weakness , skeletal muscle , endocrinology , biochemistry , biology , gene
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. © 2011 IUBMB IUBMB Life, 63(11): 979–986, 2011