Pompe disease, an inherited rare disease, is often fatal and incapacitates the heart and skeletal muscles. The absence of an essential protein due to the mutation in a gene encoding GAA, leads 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. This is why Pompe disease is also known as glycogen storage disease type II (GSDII).
The worldwide Pompe disease incidence is 1 in 40,000 live births with the late-onset form of the disease generally being more common than the early neonata...
