Use

Determination of acid alpha‑glucosidase (GAA) enzymatic activity is critical for assessing Pompe disease, a lysosomal storage disorder characterized by GAA deficiency leading to glycogen accumulation, muscle weakness, cardiomyopathy (especially in infantile-onset), and respiratory dysfunction. The enzyme activity assay supports diagnosis, helps differentiate true disease from pseudodeficiency or carriers, and guides subsequent confirmatory testing such as molecular genetic analysis of the GAA gene. Early identification is actionable given availability of enzyme replacement therapy.