Pompe disease, or glycogen storage disease type II (GSD2), is a rare lysosomal storage disorder caused by biallelic pathogenic variants in the acid alpha-glucosidase gene (GAA, MIM #606800). The lysosomal enzyme acid alpha-glucosidase (GAA) hydrolyses the 1,4 and 1,6 alpha-glycosidic chemical bonds to break down glycogen into glucose. In Pompe disease, GAA deficiency leads to glycogen accumulation in lysosomes, causing cellular damage. The disease ranges from an infantile-onset form characterized by severe hypotonia, hypertrophic cardiomyopathy, and respiratory failure, often resulting in death within the first year of life, to a milder, late-onset form characterized by progressive muscle weakness, respiratory insufficiency, and significant morbidity.1