Human urinary sulfatides in patients with sulfatidosis (metachromatic leukodystrophy).
The excretion of sulfatides in human urine was studied. 24-hr urine collections were filtered. Urinary glycolipids were extracted from the filter paper and fractionated on diethylaminoethyl cellulose and silicic acid columns, and by thin-layer chromatography. Fatty acids and long-chain bases were analyzed by gas-liquid chromatography of the corresponding esters and aldehydes. Glycosyl ceramide concentration was determined by gas-liquid chromatography of the trimethylsilyl ethers of the methyl glycosides. Normal females were found to excrete larger amounts of dihexosyl ceramides than males. Sulfatides were detected in all urine specimens. In sulfatidosis, a hereditary sulfatide storage disorder known as metachromatic leukcdystrophy, a large increase in sulfatide was readily apparent on a thin-layer chromatogram of the crude lipid extract. On comparing samples from normal individuals and patients with sulfatidosis, urinary sulfatide composition was remarkably similar to that previously reported in the kidney, including differences in fatty acid pattern. The determination of urinary sulfatides was a valuable confirmation of the deficiency in arylsulfatase A activity characteristic of sulfatidosis.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002554:Cerebrosides / Q000652:urine; D002648:Child; D002675:Child, Preschool; D002849:Chromatography, Gas; D002855:Chromatography, Thin Layer; D005227:Fatty Acids / Q000032:analysis; D005260:Female; D006579:Heterozygote; D006601:Hexoses / Q000032:analysis; D006801:Humans; D007223:Infant; D007668:Kidney / Q000378:metabolism; D007966:Leukodystrophy, Metachromatic / Q000235:genetics / Q000378:metabolism / Q000652:urine*; D008297:Male; D008875:Middle Aged; D013429:Sulfatases / Q000378:metabolism / Q000652:urine; D013433:Sulfoglycosphingolipids / Q000652:urine*
D002554:Cerebrosides; D005227:Fatty Acids; D006601:Hexoses; D013433:Sulfoglycosphingolipids; D013429:Sulfatases