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

[+] Article, Author, and Disclosure Information

Supported in part by the State of California Department of Mental Hygiene and by Research Grants HD-0412, HD-00345, HD-05615, and MCH 927, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Md.

▸Requests for reprints should be addressed to Dr. Michel Philippart, UCLA Department of Psychiatry, Neuropsychiatric Institute, 760 Westwood Plaza, Los Angeles, Calif. 90024.

Los Angeles, California

Ann Intern Med. 1972;77(2):195-200. doi:10.7326/0003-4819-77-2-195
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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.





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