Description

For Glycogen Storage Disease 2/Pompe Disease look at code A386. The GAA gene encodes the lysosomal alpha-glucosidase (also known as acid maltase), which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe’s disease, which is an autosomal recessive disorder with a broad clinical spectrum (Gort et al., 2007).

External Information

Click here for more information about the GAA whole gene NGS genetic test.