The gene linked to Pompe disease is known as the GAA gene. In healthy people, it produces the GAA enzyme. This enzyme breaks down a sugar called glycogen into glucose. Your body then uses the ...

This model harbors the c.1826dupA mutation in the murine Gaa gene, which resembles the human GAA c.1826dupA (p.Y609*) mutation seen in infantile-onset Pompe disease.

However, people with Pompe disease have a mutation in the GAA gene, causing a reduction or complete elimination of the GAA enzyme. Read on to learn more about the types of Pompe disease ...

Young mice received an injection of AAVB1-GAA gene therapy, which delivers a normal copy of the gene for the lysosomal enzyme alpha glucosidase (GAA), which is mutated in Pompe disease ...

Young mice received an injection of AAVB1-GAA gene therapy, which delivers a normal copy of the gene for the lysosomal enzyme alpha glucosidase (GAA), which is mutated in Pompe disease ...