A simple and rapid method is described for the screening of genetic disorders with abnormal excretion of monosaccharides, disaccharides, and oligosaccharides. Monosaccharides such as xylose, fucose, glucose, fructose, and galactose, and disaccharides such as sucrose and lactose can be readily identified. Using this method, a distinctive oligosaccharide pattern has been found in urine from five unrelated patients with type II glycogenosis and previously reported patterns in four other storage disorders-mannosidosis, fucosidosis, GM'1 gangliosidosis and aspartylglucosaminuria have been confirmed. A confirmatory test yielding greater resolution of the oligosaccharide bands is also described.
|Original language||English (US)|
|Number of pages||6|
|Journal||Medical Laboratory Sciences|
|State||Published - Jan 1 1979|