Enzyme replacement in Fabry's disease, an inborn error of metabolism.

  title={Enzyme replacement in Fabry's disease, an inborn error of metabolism.},
  author={C A. Mapes and Rachel L. Anderson and Charles C. Sweeley and Robert J Desnick and William Krivit},
  volume={169 3949},
Two patients with Fabry's disease were infused with normal plasma to provide active enzyme (ceramide trihexosidase) for hydrolysis of the plasma substrate, galactosylgalactosylglucosylceramide. Maximum ceramide trihexosidase activity occurred 6 hours after infusion of the plasma, attaining a level approximately 150 percent of that in normal plasma; enzymatic activity was detectable for 7 days. The amount of accumulated substrate in the plasma of these recipients decreased about 50 percent on… CONTINUE READING

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