Simple laboratory determination of excess oligosacchariduria.
I describe a simple set of procedures for the screening of patients' urine to detect oligosaccharide-storage diseases. Urines from patients with mucolipidosis I, mannosidosis, fucosidosis, aspartylglycosaminuria, and type VI glycogen-storage disease can be distinguished by thin-layer chromatography. Patients with beta-galactosidase deficiency can be detected by use of a combination of ion-exchange and thin-layer chromatography. Excess sialyloligosaccharide excretion is detected by using gel filtration and a quantitative assay for neuraminic acid. The advantages of the system are detection of virtually all known disorders in which oligosaccharides are over-excreted, production of characteristic patterns, and small sample requirement.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000652:urine*; D002852:Chromatography, Ion Exchange / Q000379:methods; D002855:Chromatography, Thin Layer / Q000379:methods; D006801:Humans; D007787:Lactose Intolerance / Q000652:urine; D009081:Mucolipidoses / Q000175:diagnosis / Q000652:urine; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000652:urine; D009844:Oligosaccharides / Q000652:urine*
D009844:Oligosaccharides