URINARY GLYCOLIPIDS IN FABRY'S DISEASE

Publisher Website
Google Scholar
Abstract
Urinary lipids extracted from normal subjects contain only small quantities of ceramide trihexoside (CTH) and ceramide dihexoside (CDH). Although there is some overlap, two urinary glycolipid excretory patterns may be distinguished within families affected by Fabry's disease. Type I, found in all affected males, is marked by a striking increase of CTH and a slightly high CDH output. Type II, found in female carriers, consists of a slight increase in both CTH and CDH. Since the concentration of urinary glycolipids does not change with age, examination of urinary lipids may aid in confirming the diagnosis of Fabry's disease and in predicting whether an apparently normal male will ultimately develop clinical manifestations.

This publication has 0 references indexed in Scilit: