Urinary Abnormalities in Fucosidosis. Characterization of a Disaccharide and Two Glycoasparagines

Abstract

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: 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.

Urinary oligosaccharide excretion in disorders of glycolipid, glycoprotein and glycogen metabolism

“…Strecker and co-workers (1977b) described 9 oligosaccharides and glycopeptides isolated from two patients. Recent studies by Lundblad et al (1978 a) confirmed the structures of at least two of the fuco-oligosaccharides reported by Strecker's group and in addition a new glyc0asparagine compound was isolated. A report of the first French-Canadian case by Ng Ying Kin and Wolfe (1979) gave further evidence of fucoglycoasparagine-linked oligosaccharide excretion and they suggested that this may be the result of an incomplete catabolism of human plasma a~-acid glycoprotein.…”

Analysis of urinary oligosaccharides in lysosomal storage disorders by capillary high-performance anion-exchange chromatography–mass spectrometry

“…3a. Of the eight fucosylated oligosaccharides detected, three have already been previously shown to be related to fucosidosis [2, 29, 30, 37, 44].

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“…The set of 54 glycans was established by manual assignment of glycan species from all HPAEC-MS(/MS) data. This set includes glycans described previously in literature for the LSDs included in this study [2, 9, 15, 16, 25, 29–40] as well as the glycans found previously for galactosialidosis samples [26]. …”

“…These LSDs are the result of defects of one or more enzymes or cofactors involved in the catabolism of glycoconjugates that takes place in the lysosome. Fucosidosis is caused by a deficient lysosomal α- l -fucosidase (EC 3.2.1.51) and results in secretion of fucosyl-oligosaccharides [1, 2]. Deficient lysosomal α- d -mannosidase (EC 3.2.1.24) causes α-mannosidosis and excessive urinary excretion of oligomannosidic glycans [3–5].…”

Genetic Defects in Glycoprotein Metabolism

“…Fucosylated glycolipid (44,255), proteoglycans (74), oligosaccharides, and glycopeptides (126,159,236,237,256) are some of the accumulating glycoconjugates characteristic of fucosido sis. Oligosaccharide and glycopeptide storage appears nearly ubiquitous in all visceral tissue (256), including cultured skin fibroblasts (254).…”