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

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.