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Fabry disease

Detection of heterozygotes by examination of glycolipids in urinary sediment

Departments of Biochemistry and Clinical Unit of the Eunice Kennedy Shriver Center for Mental Retardation at the W.E. Fernald State School, Waltham. MA (Drs. Cable, McCluer, and Kolodny), GRECC, Edith Nourse Rogers Memorial Veterans Hospital, Bedford, MA (Dr. Ullman) and the Department of Neurology, Massachusetts General Hospital and Harvard Medical School (Dr. Kolodny), Boston, MA.

Fabry disease is an X-linked sphingolipid disorder that is manifest clinically as a disease of nerves, kidneys, and blood vessels. Precise identification of Fabry heterozygotes is essential for genetic counseling. Heterozygote detection by enzyme assay does not consistently distinguish them from unaffected females. We describe a method for Fabry heterozygote detection, based on quantitation of urinary sediment glycolipids by high-performance liquid chromatography. In specimens from 12 Fabry heterozygotes, the total glycolipid fraction was increased (10 to 100-fold) and trihexosyl ceramide (CTH) was 2-to 70-fold times normal. Digalactosyl ceramide (Digal-Cer), which is normally present in trace amounts in urine, was also increased. The ratio of CTH and Digal-Cer to hydroxy fatty acid glucosyl ceramide was increased and seemed to be characteristic of Fabry disease. This method provides rapid and accurate detection of Fabry heterozygotes.

Address correspondence and reprint requests to Dr. Ullman, GRECC, 182B Edith Nourse Rogers Memorial Veterans Hospital, Bedford, MA 01730.

Presented in part at the thirty-third annual meeting of the American Academy of Neurology, Toronto, Ontario, Canada, April 1981.

This work was supported in part by NIH grant Nos. HD05515, HD04147, HD07164, and NS15037.

Accepted for publication March 10, 1982.

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