Diagnosis of Glycosphingolipidoses by Urinary-Sediment Analysis

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Abstract
Biochemical diagnosis of patients with Krabbe's leukodystrophy, Gaucher's disease, lactosylceramidosis, Fabry's disease, Sandhoff's disease and metachromatic leukodystrophy can be made by the chemical analysis of urinary sediment from a 24-hour collection. Individual neutral glycosphingolipids were separated by thin-layer chromatography and quantitatively estimated by gas-liquid chromatography Marked accumulation of the characteristic glycosphingolipid was found in the sediment from patients with these diseases whereas normal sediment contained only small amounts of glycolipid material. With this method it was possible to detect genetic variants of Fabry's disease and heterozygotes for both Fabry's and Gaucher's diseases.