Pompe disease (OMIM 23200), also referred to as glycogen storage disease type II or acid maltase deficiency, is a lysosomal storage disease (LSD) caused by mutations in the gene (GAA) that encodes the lysosomal hydrolase acid α-glucosidase (GAA) [1]–[2]. This evidence concerns the gene GAA and Glycogen storage disease due to acid maltase deficiency.