Glucotetrasaccharides, Random, Urine

Use

Used to aid in diagnosing Pompe disease (glycogen storage disorder type II) when combined with acid alpha‑glucosidase enzyme activity assays and molecular genetic analysis of the GAA gene; also used to monitor patients with Pompe disease on enzyme replacement therapy; may support diagnosis and monitoring of other glycogen storage disorders, though glucotetrasaccharide excretion is less consistently elevated in disorders other than Pompe disease; not useful for carrier screening.