Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.6.1 (sulfatase)
3,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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 greater than 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 beta-N-acetylhexosaminidase A of non-reducing end beta-linked GlcNAc6S residues of keratan sulfate and/or sulfated glycoproteins.
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PMID: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. 643 28