Structure of seven oligosaccharides excreted in the urine of a patient with Sandhoff's disease (GM2 gangliosidosis-variant O).
The urine of a patient with Sandhoff's disease (GM2 gangliosidosis-variant O) contains 10--12 N-acetylglucosamine-rich oligosaccharides in high amounts. The structures of seven of these have been determined: beta-GlcNAc(1--2)-alpha-Man-(1--3)-beta-man-(1--4)-GlcNAc; beta-GlcNAc-(1--4)-alpha-Man-(1--3)-beta-Man-(1--4)-GlcNAc; beta-GlcNAc-(1--2)-alpha-Man-(1--6)-beta-Man-(1--4)-GlcNAc; beta-GlcNAc-(1--4)-alpha-Man-(1--6)-beta-Man-(1--4)-GlcNAc; beta-GlcNAc-(1--2)-alpha-Man-(1--3)-[beta-GlcNAc-(1--2)-alpha-Man-(1--6)]beta-Man-(1--4)-GlcNAc; beta-GlcNAc-(1--2)-alpha-Man-(1--3)[beta-GlcNAc-(1--2)-alpha-Man-(1--6)][beta-GlcNAc-(1--4)]beta-Man-(1--4)-GlcNAc; beta-GlcNAc-(1--2)-alpha-Man(1)-(1--3)[beta-GlcNAc-(1--2)-alpha-Man(2)-(1--6)]beta-Man-(1--4)-GlcNAc, with additional beta-GlcNAc, with additional beta-GlcNAc-(1--4) on mannose (1) or (2). An unusual oligosaccharide, with a tri-branched beta-mannose, has been characterized as the major component excreted in urine.
D000117:Acetylglucosamine / Q000032:analysis; D005733:Gangliosidoses / Q000652:urine*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008358:Mannose / Q000032:analysis; D008968:Molecular Conformation; D009844:Oligosaccharides / Q000652:urine*
D009844:Oligosaccharides; D008358:Mannose; D000117:Acetylglucosamine