Structure of Seven Oligosaccharides Excreted in the Urine of a Patient with Sandhoff's Disease (GM2 Gangliosidosis‐Variant O)

Abstract
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 7 of these were determined: .beta.-GlcNAc-(1 .fwdarw. 2)-.alpha.-Man-(1 .fwdarw. 3)-.beta.-Man-(1 .fwdarw. 4)-GlcNAc; .beta.-GlcNAc-(1 .fwdarw. 4)-.alpha.-Man-(1 .fwdarw. 3)-.beta.-Man-(1 .fwdarw. 4)-GlcNAc; .beta.-GlcNAc-(1 .fwdarw. 2)-.alpha.-Man-(1 .fwdarw. 6)-.beta.-Man-(1 .fwdarw. 4)-GlcNAc; .beta.-GlcNAc-(1 .fwdarw. 4)-.alpha.-Man-(1 .fwdarw. 6)-.beta.-Man-(1 .fwdarw. 4)-GlcNAc; .beta.-GlcNAc-(1 .fwdarw. 2)-.alpha.-Man-(1 .fwdarw. 3)-[.beta.-GlcNAc-(1 .fwdarw. 2)-.alpha.-Man-(1 .fwdarw. 6)].beta.-Man-(1 .fwdarw. 4)-GlcNAc; .beta.-GlcNAc-(1 .fwdarw. 2)-.alpha.-Man-(1 .fwdarw. 3)[.beta.-GlcNAc-(1 .fwdarw. 2)-.alpha.-Man-(1 .fwdarw. 6)][.beta.-GlcNAc-(1 .fwdarw. 4)].beta.-Man-(1 .fwdarw. 4)GlcNAc; .beta.-GlcNAc-(1 .fwdarw. 2)-.alpha.-Man(1)-(1 .fwdarw. 3) [.beta.-GlcNAc-(1 .fwdarw. 2)-.alpha.-Man(2)-(1 .fwdarw. 6)].beta.-Man-(1 .fwdarw. 4)-GlcNAc, with additional .beta.-GlcNAc-(1 .fwdarw. 4) on mannose (1) or (2). An unusual oligosaccharide, with a tri-branched .beta.-mannose, was characterized as the major component excreted in urine.