Alternative Names & Classifications:
Acid Maltase Deficiency (CLINICAL), Glycogenosis Type II (CLINICAL), Glycogen Storage Disease Due To Acid Maltase Deficiency (ICD-11), Glycogen Storage Disease Type II (MESH)
Description
Specifically, a deficiency of the enzyme acid alpha-glucosidase leads to glycogen accumulation in the lysosomes, particularly in muscle tissue. This causes progressive muscle weakness and can severely affect the heart and respiratory system.