Enzyme Replacement Therapy in Pompe Disease

Pompe disease (glycogen storage disease type II) is an autosomal recessive lysosomal storage disorder caused by acid alpha-glucosidase deficiency. Glycogen accumulates in muscle, heart and liver.

In the infantile form, severe hypertrophic cardiomyopathy predominates, while the late-onset form is dominated by respiratory failure and proximal muscle weakness, with milder cardiac involvement. Alglucosidase alfa is given at 20 mg/kg IV every 2 weeks.

Next-generation agents (avalglucosidase alfa, cipaglucosidase alfa with miglustat) offer improved efficacy and quality of life.