Acid alpha-glucosidase deficiency (Pompe disease).

@article{Fukuda2007AcidAD,
  title={Acid alpha-glucosidase deficiency (Pompe disease).},
  author={Tokiko Fukuda and Ashley Roberts and PaulH. Plotz and Nina Raben},
  journal={Current neurology and neuroscience reports},
  year={2007},
  volume={7 1},
  pages={
          71-7
        }
}
The development and recent approval of recombinant acid alpha-glucosidase for enzyme replacement therapy have been major milestones in Pompe disease research. Acid alpha-glucosidase is the enzyme responsible for degradation of glycogen polymers to glucose in the acidic milieu of the lysosomes. Cardiac and skeletal muscles are the two major tissues affected by the accumulation of glycogen within the lysosomes. Both cardiomyopathy and skeletal muscle myopathy are observed in patients with… CONTINUE READING
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