title: Sialogluciduria in lysosomal diseases: quantitative and qualitative analysis of urinary low molecular sialoglucides from patients with mucopolysaccharidosis and with mucolipidosis.
abstract: Low molecular sialoglucides were isolated from the urines of normal human male and two patients with lysosomal disease (mucopolysaccharidosis type II and a new type of mucolipidosis) by charcoal adsorption method. Urinary sialoglucides were fractionated into two fractions (SG-1 and SG-2) by Sephadex G-25 gel filtration and considerable increase in excretion of SG-1 was observed in the patients with lysosomal diseases: two- to three-fold increase in mucopolysaccharidosis type II and seven- to eight-fold increase in mucolipidosis. SG-1 was further fractionated into 18 to 19 fractions by Sephadex G-50 gel filtration and ion exchange chromatography. Comparison of the amounts and the chemical compositions of these fractions suggested that the increase in SG-1 was dependent upon the increase in excretion of low molecular sialoglucides rich in mannose and N-acetylglucosamine.
mesh_terms: D000596:Amino Acids / Q000652:urine; D002648:Child; D002849:Chromatography, Gas; D006801:Humans; D008297:Male; D009081:Mucolipidoses / Q000652:urine*; D009083:Mucopolysaccharidoses / Q000652:urine*; D009844:Oligosaccharides / Q000652:urine; D012794:Sialic Acids / Q000652:urine*; D012795:Sialoglycoproteins / Q000652:urine
chemical_list: D000596:Amino Acids; D009844:Oligosaccharides; D012794:Sialic Acids; D012795:Sialoglycoproteins