Isolation and characterization of N-acetylglucosamine 6-sulfate from the urine of a patient with Sanfilippo type D syndrome and its occurrence in normal urine

N-Acetylglucosamine 6-sulfate (GlcNAc6S) has been isolated from human urine and shown to be present at levels of approximately 0.02 and 14 mg/mmole creatinine in urine from normal individuals and a mucopolysaccharidosis type IIID (MPS IIID) patient respectively. We propose that the >500-fold elevation of GlcNAc6S in urine from the MPS IIID patient indicates that this sulfated monosaccharide is also a substrate for the sulfatase deficient in MPS IIID patients. We further propose that part, if not all, of the GlcNAc6S found in urine may be produced from the cleavage by β-N-acetylhexosaminidase A of non-reducing end β-linked GlcNAc6S residues of keratan sulfate and/or sulfated glycoproteins.