Enzyme Replacement Therapy by Renal Allotransplantation in Fabry's Disease

Abstract

Serial measurements of the neutral glycosphingolipids in the plasma and urine of a man who underwent renal allotransplantation because of renal failure due to Fabry's disease were done to evaluate the contribution of the donor organ to the correction of the basic metabolic defect. The concentration of galactosylgalactosylglucosylceramide in the plasma transiently decreased after the renal transplantation (from 0.76 to 0.48 μmoles per 100 ml). The variations in concentration of this lipid closely paralleled similar changes in the concentration of its precursor, N-acetylgalactosaminylgalactosylgalactosylglucosylceramide (from 0.23 to 0.07 μmoles per 100 ml), suggesting that the alterations in galactosylgalactosylglucosylceramide were the result of changes in the rate of formation of the lipid rather than increased catabolism by the graft. The data do not support the hypothesis that enzyme replacement by renal transplantation is effective in correcting the basic metabolic defect in patients with Fabry's disease.