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