Journal of Lipid Research, Vol. 10, 188-192, March 1969
Copyright © 1969 by Lipid Research, Inc.

Concentrations of glycosyl ceramides in plasma and red cells in Fabry's disease, a glycolipid lipidosis

Dennis E. Vance , William Krivit , and Charles C. Sweeley

Department of Biochemistry and Nutrition, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, and Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota 55455

Concentrations of four neutral glycosyl ceramides were determined in plasma and erythrocytes from nine hemizygous patients with Fabry's disease (a hereditary glycolipid lipidosis), from the sister of one of the patients, and from the heterozygous mother of another one. The concentration of a trihexosyl ceramide, galactosylgalactosylglucosyl ceramide, was elevated in plasma from the patients about threefold above the normal mean level, and the amount of this lipid was also increased in plasma from the two female relatives. The concentrations of glucosyl ceramide and lactosyl ceramide in plasma were slightly less than normal in the affected males, while globoside or a similar tetrahexosyl ceramide was slightly higher than normal. All but one of the Fabry patients had significantly less globoside in the red cells, as compared with the normal range, although the red cell concentration of trihexosyl ceramide was normal in all of the patients.

Thus the concentration of the lipid that accumulates in the tissues in Fabry's disease is elevated in plasma but not in red cells, whereas in Gaucher's disease the accumulating lipid (glucosyl ceramide) is elevated in both plasma and red cells.

Supplementary key words galactosylgalactosylglucosyl ceramide • blood glycolipids • globoside • Gaucher's disease • hereditary

Submitted on September 12, 1968
Accepted on November 19, 1968

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