Pompe disease (PD), which is also referred to as acid maltase deficiency or glycogen storage disease type II, is a metabolic disorder triggered by biallelic gene mutations in chromosome 17q25, which encodes for acid α-glucosidase (GAA), a lysosomal hydrolase, leading to a deficiency of the enzyme and, hence, lysosomal accumulation of glycogen, particularly in skeletal and cardiac muscle as well as the nervous system. Here, GAA is linked to Glycogen storage disease due to acid maltase deficiency.