Pompe disease is an inherited rare disease, often fatal, with the potential to damage the heart, liver, and skeletal muscles. Absence of an essential protein, Due to the mutation in a gene encoding GAA, there is an absence of a critical protein leading to a complex buildup of sugar, hence, damaging the heart, liver, and other organs. The mutated gene hampers the lysosomal-mediated degradation of glycogen resulting in its intralysosomal accumulation and disrupting the tissue architecture, thus known as glycogen storage disease type II (GSDII).
According to the American Association of Neuromuscular & Electrodiagnostic Medicine, Pompe disease (GSD II) has a broad ...
