Pompe disease is a rare, inherited lysosomal storage disorder caused by mutations in the GAA gene, leading to deficient acid alpha-glucosidase (GAA) enzyme activity. This results in excessive glycogen accumulation in muscle cells, causing progressive weakness and respiratory complications. Over the years, enzyme replacement therapy (ERT) has been the standard of care, but emerging...

  Pompe disease is a rare, inherited disorder caused by the deficiency of an enzyme called acid alpha-glucosidase (GAA), which is essential for breaking down glycogen in the body. This results in the accumulation of glycogen in various tissues, particularly the muscles, leading to progressive muscle weakness, respiratory difficulties, and in severe cases, heart failure. While there have...