Pompe disease in infants and children.

  title={Pompe disease in infants and children.},
  author={Priya Kishnani and Rodney R. Howell},
  journal={The Journal of pediatrics},
  volume={144 5 Suppl},
Pompe disease, also referred to as glycogen storage disease type II and acid maltase deficiency, is a genetic muscle disorder caused by a deficiency of acid a-glucosidase (GAA, also referred to as acid maltase). This enzyme defect results in lysosomal glycogen accumulation in multiple tissues and cell types, with cardiac, skeletal, and smooth muscle cells (Fig 1) the most seriously affected. Clinically, Pompe disease encompasses a range of phenotypes. Infantile-onset Pompe disease is uniformly… CONTINUE READING