Correction of enzymatic deficiencies by renal transplantation: Fabry's disease

Robert J. Desnick, Richard L. Simmons, Kathleen Y. Allen, John E. Woods, Carl F. Anderson, John S. Najarian, William Krivit

Research output: Contribution to journalArticlepeer-review

83 Scopus citations

Abstract

1. 1. Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism. 2. 2. The systemic accumulation of the Fabry lipid, trihexosyl ceramide, results from the deficient activity of the Fabry enzyme, ceramide trihexosidase, an α-galactosidase. 3. 3. Renal transplantation provides active enzyme to correct the metabolic defects in Fabry's disease. 4. 4. "Enzyme transplantation" may provide the enzymatic engineering to correct other inborn errors of metabolism.

Original languageEnglish
Pages (from-to)203-211
Number of pages9
JournalSurgery
Volume72
Issue number2
StatePublished - Aug 1972
Externally publishedYes

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