silicon and Angiokeratoma

A method is described for the isolation and quantitation of six neutral glycosyl ceramides from human urinary sediment. Total lipids were extracted from sediments of 24-hr urine collections, and the glycosyl ceramides were isolated by silicic acid column chromatography followed by thin-layer chromatography. Methanolysis of the individual glycosyl ceramides yielded methyl glycosides which were quantitated as the trimethylsilyl ethers by gas-liquid chromatography. By this technique, the submicromolar concentrations of six glycosyl ceramides in normal subjects and in individuals with Fabry's disease, an hereditary glycosphingolipid storage disease, were determined. Trihexosyl ceramide (galactosyl-galactosylglucosyl ceramide) and a digalactosyl ceramide accumulated in the urinary sediment of patients with Fabry's disease.

Topics: Adolescent; Adult; Angiokeratoma; Arthritis; Cerebrosides; Child; Child, Preschool; Chloroform; Chromatography, Gas; Chromatography, Thin Layer; Female; Galactose; Glucose; Glycosides; Heterozygote; Humans; Hydrogen-Ion Concentration; Lactose; Lipid Metabolism, Inborn Errors; Lipids; Male; Methanol; Methods; Middle Aged; Silicon