GAA : alpha glucosidase
Description
The GAA gene provides instructions for making the enzyme acid alpha-glucosidase (GAA), which is crucial for breaking down glycogen, a complex sugar stored in muscles and other tissues. When this gene is mutated, it leads to the accumulation of glycogen in lysosomes, cellular compartments responsible for waste disposal, causing Pompe disease. This buildup disrupts normal cellular function, particularly in muscles, leading to progressive muscle weakness and eventually, respiratory failure.
Associated Diseases
Did you know?
Pompe disease is named after the Dutch physician, Johannes Pompe, who first described the condition in 1932.
