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Diagnosing Pompe disease, when used in conjunction with acid alpha-glucosidase enzyme activity assays and molecular genetic analysis of the GAA gene
Monitoring Pompe patients on enzyme replacement therapy
May support the diagnosis and monitoring of other glycogen storage disorders; however, glucotetrasaccharide (Glc4) excretion appears to be less consistently elevated in glycogen storage disorders other than Pompe disease
This test is not useful for carrier screening
Increased accumulation of glycogen in the lysosome is a typical finding due to lack of the lysosomal enzyme acid alpha-glucosidase (GAA). Excess glycogen is degraded to glucotetrasaccharide, which is excreted in urine.
Most individuals with glycogen storage disorder type II (GSD II, Pompe disease) and other glycogen storage disorders excrete glucotetrasaccharides in their urine.
Measuring glucotetrasaccharide in the urine can be helpful when employed in conjunction with GAA enzyme activity assay and molecular genetic analysis of the GAA gene.
Measuring glucotetrasaccharide in the urine of GSD II patients undergoing enzyme replacement therapy (ERT) has been reported as a useful tool for monitoring the effects of treatment.
See Newborn Screen Follow-up for Pompe Disease in Special Instructions.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)