Urinary abnormalities in fucosidosis. Characterization of a disaccharide and two glycoasparagines.
The urinary excretion of fucose-containing material was found to be highly increased in a patient with fucosidosis type 2. Three structurally related compounds, a disaccharide and two glycoasparagines, were isolated from the urine. The isolation procedure included ultrafiltration, gel chromatography on Sephadex G-25, preparative zone electrophoresis and paper chromatography. From structural studies including optical rotation, sugar analysis, methylation analysis, ninhydrin degradation, reduction with lithium aluminium hydride and partial hydrolysis, the following structures were deduced: formula (see text), where Fucp is fucopyranose, Manp is mannopyranose, Galcp is galactopyranose, GlcNAcp is 2-acetamido-2-deoxyglucopyranose and Asn is asparagine. The yields of these compounds were 1.7, 40, and 6 mg/l, respectively. The origin of the disaccharide and the two glycoasparagines is probably the core region of glycoprotein carbohydrate chains.
D001216:Asparagine / Q000652:urine*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000652:urine*; D002241:Carbohydrates / Q000032:analysis; D002648:Child; D004187:Disaccharides / Q000652:urine*; D006801:Humans; D008297:Male; D013058:Mass Spectrometry; D008968:Molecular Conformation; D009844:Oligosaccharides / Q000652:urine*; D005644:alpha-L-Fucosidase / Q000172:deficiency*
D002241:Carbohydrates; D004187:Disaccharides; D009844:Oligosaccharides; D001216:Asparagine; D005644:alpha-L-Fucosidase