Enzyme replacement therapy in the mouse model of Pompe disease.

  title={Enzyme replacement therapy in the mouse model of Pompe disease.},
  author={Nina Raben and Marco Danon and Abigail L Gilbert and Sunita Dwivedi and Brad Collins and Beth L. Thurberg and Robert J. Mattaliano and Kanneboyina Nagaraju and Paul H. Plotz},
  journal={Molecular genetics and metabolism},
  volume={80 1-2},
Deficiency of acid alpha-glucosidase (GAA) results in widespread cellular deposition of lysosomal glycogen manifesting as myopathy and cardiomyopathy. When GAA-/- mice were treated with rhGAA (20 mg/kg/week for up to 5 months), skeletal muscle cells took up little enzyme compared to liver and heart. Glycogen reduction was less than 50%, and some fibers showed little or no glycogen clearance. A dose of 100 mg/kg/week resulted in approximately 75% glycogen clearance in skeletal muscle. The enzyme… CONTINUE READING
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