Acid alpha-glucosidase (GAA)

Acid alpha-glucosidase is a lysosomal enzyme encoded by the GAA gene, responsible for hydrolyzing glycogen to glucose within lysosomes. Deficiency or dysfunction of this enzyme leads to Pompe disease (glycogen storage disease type II), a severe metabolic disorder characterized by accumulation of glycogen in tissues, especially muscle and cardiac muscle, resulting in progressive muscle weakness and cardiomyopathy. Therapeutic targeting of this enzyme via enzyme replacement therapy with recombinant alglucosidase alfa can significantly alter disease course, especially when initiated early. The canonical structure of human acid alpha-glucosidase is a glycoprotein processed into a mature, active form within lysosomes, and it belongs to glycoside hydrolase family 31.

Other names

acid maltaseAglucosidase alfaAlpha-1,4-glucosidaseAmyloglucosidaseGlucoamylaselysosomal alpha-glucosidaseacid alpha-glucosidase preproprotein

Enzyme replacement (exogenous enzyme hydrolyzes lysosomal glycogen); hydrolytic cleavage of alpha-1,4- and alpha-1,6-glycosidic bonds in glycogen