This biochemical test is a quantitative measurement of glucosamine N acetyl transferase enzyme activity and can be used as a 1st tier test for patients
with a clinical suspicion of Mucopolysaccharidosis IIIC (MPS IIIC), Sanfilippo syndrome C. Demonstration of deficient glucosamine N acetyl transferase
enzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis IIIC (MPS IIIC), Sanfilippo syndrome C.
In addition, this assay can be used to clarify molecular findings in the HGSNAT gene and to monitor patients undergoing treatment.
glucosamine N acetyl transferase