PEDIATRICS Vol. 43 No. 2 February 1969, pp. 201-206
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URINARY GLYCOLIPIDS IN FABRY'S DISEASE

Their Examination in the Detection of Atypical Variants and the Pre-symptomatic State

Michel Philippart M.D.1, Louis Sarlieve M.S.1, and Alberto Manacorda M.D.1

1 Laboratory of Developmental Neurology, Institute Bunge, Antwerp, Belgium, and University of California, Los Angeles, School of Medicine, Division of Pediatric Neurology, Los Angeles

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.

Submitted on November 20, 1967
Accepted on July 11, 1968




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C. A. Mapes, R. L. Anderson, C. C. Sweeley, R. J. Desnick, and W. Krivit
Enzyme Replacement in Fabry's Disease, an Inborn Error of Metabolism
Science, September 4, 1970; 169(3949): 987 - 989.
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