title: Comparison of the urinary glycoconjugates excreted by patients with type I and type II fucosidosis.
abstract: Glycoconjugates were isolated, by repeated chromatography on Biogel P-4, from urine of two patients with different phenotypes of fucosidosis, type I (acute) and type II (chronic). Studies of the isolated compounds with thin-layer chromatography, chromatography on Biogel P-4, gas-liquid chromatography, and 1H- and 13C-nuclear magnetic resonance spectroscopy showed differences in the excretion patterns of fucosyl glycoconjugates in the urine of these patients. The amount of the diglycosylasparagine, fuc alpha 1-6glcNAc-Asn, excreted was significantly lower for the type I than for the type II patient. On the other hand, the reducing hexasaccharide gal beta 1-4(fuc alpha 1-3)glcNAc beta 1-2man alpha 1-3/6man beta 1-4glcNAc was present in much greater quantities in urine from the type I patient. The differences in the excretion patterns of these glycoconjugates may be attributed to different substrate specificities for the residual alpha-L-fucosidases in the two forms of the disease. I propose that such differences may be exploited for the early laboratory diagnosis of the type II form of the disease, particularly by thin-layer chromatography.
mesh_terms: D000117:Acetylglucosamine / Q000652:urine; D002849:Chromatography, Gas; D002850:Chromatography, Gel; D002855:Chromatography, Thin Layer; D005645:Fucosidosis / Q000235:genetics / Q000378:metabolism*; D006020:Glycopeptides / Q000652:urine*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D009844:Oligosaccharides / Q000652:urine*; D010641:Phenotype
chemical_list: D006020:Glycopeptides; D009844:Oligosaccharides; D000117:Acetylglucosamine