Reversal of an Inborn Sphingolipidosis (Fabry's Disease) by Kidney Transplantation

Abstract

A 38-year-old man with Fabry's disease (α-galactosidosis) received a cadaver kidney transplant in September 1969. After surgery, plasma and urine trihexosyl ceramide was successfully maintained within normal levels. Normal or higher than normal amounts of the deficient enzyme, α-galactosidase, were excreted in the urine. Plasma α-galactosidase activity, which was undetectable before transplantation, has fluctuated from 5% to 20% of the normal activity. Clinical improvement included decreased fatigability, complete disappearance of previous crippling bouts of pain, and sweating in this patient who had been anhidrotic in the past. Organ transplantation may thus provide an effective method of enzyme substitution. This type of therapy may be applicable to other selected types of inherited metabolic disorders.