A male infant presents at 6 months with hypotonia, cardiomegaly, and macroglossia. Echo shows a markedly hypertrophied non-obstructive cardiomyopathy. Muscle biopsy shows PAS-positive vacuoles. Enzyme assay demonstrates deficiency of acid alpha-glucosidase. The most appropriate disease-modifying treatment is:
- A Enzyme replacement therapy with alglucosidase alfa (Myozyme) ✓
- B High-protein, low-carbohydrate diet
- C Bone marrow transplantation
- D Gene therapy with AAV9-GAA vector (currently investigational)
Explanation
Pompe disease (glycogen storage disease type II) is caused by deficiency of acid alpha-glucosidase (acid maltase), leading to lysosomal glycogen accumulation in cardiac and skeletal muscle. The classic infantile-onset form presents with cardiomyopathy, hypotonia, and macroglossia and is fatal within 1–2 years without treatment. Enzyme replacement therapy with alglucosidase alfa (Myozyme/Lumizyme) is the approved, life-saving treatment that significantly prolongs survival and cardiac function. Dietary modification helps in GSD types I and III but not Pompe. Bone marrow transplant has no role. Gene therapy is currently in clinical trials but not approved.
Reference: Ghai Essential Pediatrics, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.