Sialogluciduria in lysosomal diseases: quantitative and qualitative analysis of urinary low molecular sialoglucides from patients with mucopolysaccharidosis and with mucolipidosis.

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.