Pompe disease (PD), also known as glycogen storage disease type II (GSDII) or acid maltase deficiency (AMD), is a rare lysosomal storage disorder caused by a genetic deficiency of acid α-glucosidase (GAA) enzyme which results in the accumulation of lysosomal and non-lysosomal glycogen and the alteration of autophagy and cell signaling in multiple tissues, primarily in the muscle tissue (1–3). This evidence concerns the gene GAA and glycogen storage disease II.