Above-Normal Urinary Excretion of Urinary Ceramides in Farber's Disease, and Characterization of Their Components by High-Performance Liquid Chromatography

Abstract

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 µg 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.

metachromatic leukodystrophy, sphlngolipids, lipogranulomatosis, sphingolipidosis, results for tissue compared, normal values