i(3)so3-galactosylceramide and Fabry-Disease

Topics: Adult; Animals; Bone Marrow; Cell Line; Ceramides; Child; Fabry Disease; Fucose; Galactose; Gangliosides; Gaucher Disease; Genetic Variation; Glycolipids; Glycoside Hydrolases; Humans; Leukemia, Myeloid; Leukodystrophy, Globoid Cell; Leukodystrophy, Metachromatic; Lipid Metabolism, Inborn Errors; Lipidoses; Mice; Niemann-Pick Diseases; Sulfoglycosphingolipids

A fast and simple method for determination of sulfatides in the urine of patients with metachromatic leukodystrophy (MLD, arylsulfatase A deficiency) has been developed. The procedure consists of two steps: extraction of total urinary lipids by reversed-phase chromatography and their HPTLC separation. Two types of sorbents based on different matrixes were compared, of which the hydroxyethyl methacrylate C-18 type sorbent was found to be superior. Twenty-milliliter aliquots of urine are sufficient for the analysis. The technique is appropriate for simultaneous qualitative identification and semiquantitative densitometric determination and is suitable for routine work. The amount of sulfatides is expressed in relation to sphingomyelin, which copurifies with sulfatides and better reflects the level of membrane lipids in urine than commonly used parameters (creatinine, urine volume, etc.). The ranges were found to be 0.15-0.68 nmol sulfatide/nmol sphingomyelin for control individuals and 3.5-27.2 nmol sulfatide/nmol sphingomyelin for MLD patients. The excretion of sulfatides is pathonognomic for true MLD (due to the accumulation in kidney) and therefore its analysis is important for evaluation of suspected MLD cases including clinically and enzymatically atypical cases. The method is also useful as a complementary analysis for other lipidoses with high excretion of sphingolipids in urine (e.g., Fabry disease).

Topics: Case-Control Studies; Chromatography; Chromatography, Thin Layer; Fabry Disease; Humans; Leukodystrophy, Metachromatic; Lipids; Proteinuria; Sulfoglycosphingolipids

Topics: Ceramides; Cerebrosides; Fabry Disease; Fucose; Galactosidases; Gaucher Disease; Glycolipids; Glycoside Hydrolases; Hexosaminidases; Humans; Leukodystrophy, Globoid Cell; Leukodystrophy, Metachromatic; Lipid Metabolism, Inborn Errors; Lipidoses; Neuraminic Acids; Niemann-Pick Diseases; Organ Specificity; Sphingomyelins; Sulfoglycosphingolipids