Above-normal urinary excretion of urinary ceramides in Farber's disease, and characterization of their components by high-performance liquid chromatography.
We compared the sphingolipid content of urine from a patient with Farber's disease with that of control urine. The ceramides were measured by high-performance liquid chromatography. The patient's urine contained 1.2 mug of ceramides per milligram of creatinine, more than 200-fold the normal amount. The urinary ceramides were isolated by high-performance liquid chromatography for further identification. They contained mainly nonhydroxy fatty acids and only a small quantity of those with 2-hydroxy fatty acids. This contrasts with the previously described composition of the patient's renal and cerebellar tissue. The fatty acid and long-chain base compositions of the urinary ceramides containing nonhydroxy fatty acids were nearly identical to those of the patient's kidney.
D002518:Ceramides / Q000378:metabolism / Q000652:urine*; D002554:Cerebrosides / Q000652:urine; D002784:Cholesterol / Q000652:urine; D002845:Chromatography; D005233:Fatty Alcohols / Q000652:urine; D006801:Humans; D008607:Intellectual Disability / Q000652:urine; D007668:Kidney / Q000378:metabolism; D007966:Leukodystrophy, Metachromatic / Q000652:urine; D008064:Lipidoses / Q000652:urine*; D008055:Lipids / Q000302:isolation & purification / Q000652:urine; D008297:Male; D010859:Pigmentation Disorders / Q000652:urine; D013055:Spectrophotometry, Infrared; D013109:Sphingomyelins / Q000652:urine; D013433:Sulfoglycosphingolipids / Q000652:urine
D002518:Ceramides; D002554:Cerebrosides; D005233:Fatty Alcohols; D008055:Lipids; D013109:Sphingomyelins; D013433:Sulfoglycosphingolipids; D002784:Cholesterol