What therapy is specifically used for Pompe disease to replace the deficient enzyme?

• A. Immunotherapy
• B. Enzyme replacement therapy with alglucosidase alfa (Myozyme)
• C. Gene therapy
• D. Stem cell therapy

Answer: (B)

Pompe disease arises from a deficiency of the enzyme acid alpha-glucosidase (GAA), so the treatment that directly addresses the problem is enzyme replacement therapy. Enzyme replacement therapy uses recombinant human GAA to supply the missing enzyme, which is taken up by cells and delivered to lysosomes where it breaks down glycogen. The specific therapy used is alglucosidase alfa, sold as Myozyme, and it is given by IV infusion on a regular schedule (often every two weeks) to improve outcomes, especially in infantile-onset and later-onset forms. This approach provides the actual enzyme the body lacks, unlike immunotherapy, gene therapy, or stem cell therapy, which do not replace the deficient enzyme in Pompe disease.