Pompe disease

About Pompe disease

Pompe disease, also known as Glycogen storage disease type 2, is a neuromuscular disease caused by mutations in the gene encoding GAA. GAA is a protein that normally degrades complex glycogen into a simple monosaccharide, glucose. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.



Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.

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