Abstract

This chapter focuses on Fabry's disease. Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism. Transplantation of enzymatically active renal tissue into patients with Fabry's disease has resulted in decrease to normal of the accumulated glycosphingolipid substrate in plasma. The diagnosis of hemizygotes and heterozygotes for Fabry's disease can be confirmed by the deficient activity of ceramide trihexosidase in plasma, urine, leukocytes, cultured fibroblasts, or biopsied tissue. The chapter also discusses clinical characteristics of Fabry's disease. The clinical manifestations of the disease result from the generalized visceral deposition of the Fabry glycosphingolipid, particularly in the cardiovascular-renal system. Three separate approaches to enzyme replacement have been utilized in Fabry's disease. These are: (1) the plasma infusion, (2) renal transplantation, and (3) direct enzyme infusion.

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.