Use

This test is used for the diagnosis of Pompe disease, serving as a confirmatory reflex following the evaluation through a six-enzyme panel. Pompe disease, or glycogen storage disease type II, is an autosomal recessive disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase due to variants in the GAA gene. This deficiency leads to glycogen accumulation in lysosomes, causing symptoms like progressive muscle weakness, cardiomyopathy, and potentially death if not treated. Early diagnosis is crucial as enzyme replacement therapy is available, which can improve prognosis.