What is the main treatment for Pompe disease?

• A. Enzyme replacement therapy with alglucosidase alfa
• B. Dietary therapy only
• C. Immunoglobulin therapy
• D. Physical therapy only

Answer: (A)

Pompe disease is caused by a deficiency of the enzyme acid alpha-glucosidase, leading to glycogen buildup in lysosomes and progressive muscle and heart weakness. The main treatment is enzyme replacement therapy with alglucosidase alfa, a recombinant form of human GAA, given by IV to supply the missing enzyme. This directly targets the underlying defect and can slow disease progression, improve cardiac function in infants, and help stabilize or improve muscle strength in later-onset forms. Dietary management and physical therapy provide supportive care but do not fix the enzyme deficiency, and immunoglobulin therapy isn’t a standard treatment for this condition.