Genetic Test
The GAA (Alpha Glucosidase) gene encodes a lysosomal enzyme responsible for breaking down glycogen into glucose within the lysosome.
This enzyme plays a crucial role in cellular energy metabolism by facilitating the degradation of stored glycogen into usable glucose, particularly in muscle and other energy-demanding tissues.
Deficiency or malfunction of the GAA enzyme leads to Glycogen Storage Disease Type II (also known as Pompe disease), a condition characterized by glycogen accumulation within lysosomes, resulting in cellular damage and progressive dysfunction—especially in cardiac and skeletal muscles.
This genetic test targets a specific GAA mutation associated with Glycogen Storage Disease Type II.
Disease Description
Glycogen Storage Disease Type II (GSD II), also known as Pompe disease, is a serious metabolic disorder characterized by the excessive accumulation of glycogen, particularly within the liver and muscles.
Glycogen is a storage polysaccharide widely present in the body, primarily in the liver and skeletal muscles, where it helps regulate blood glucose levels and serves as an energy reserve based on physical activity and metabolic needs.
In GSD II, a deficiency in the lysosomal enzyme alpha-glucosidase impairs the breakdown of glycogen into glucose, leading to abnormal glycogen buildup.
This accumulation disrupts normal cellular function and glucose regulation, resulting in a range of clinical complications affecting multiple organs—especially the heart and skeletal muscles.
