This biochemical test is a quantitative measurement of alpha-glucosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion
of Glycogen Storage Disease Type II, Pompe disease. Demonstration of deficient alpha-glucosidase enzyme activity is considered the gold standard to
confirm a diagnosis of Glycogen Storage Disease Type II, Pompe disease.
In addition, it can be used to clarify molecular findings in the GAA gene, and to follow up abnormal newborn screening results.