Enzyme replacement therapy for Gaucher disease.
Gaucher disease is the most common lysosomal storage disease, and the first lysosomal storage disease for which a specific therapy has been developed. Enzyme replacement therapy, with glucocerebrosidase purified from human placentae, was introduced in 1991. Recombinant human glucocerebrosidase, produced by Chinese hamster ovary cells in tissue culture, became available in 1994 and has replaced the placenta-derived product. These therapies have revolutionized the care of patients with type 1 Gaucher disease, reversing many of the pathological consequences of this disease, and preventing further progression. Furthermore, they have served as a model for the treatment of other lysosomal storage diseases and inborn errors of metabolism.
Charrow
Joel
J
Children's Memorial Hospital, Division of Genetics, Birth Defects and Metabolism, Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois 60614, USA. jcharrow@northwestern.edu
D005776:Gaucher Disease / Q000188:drug therapy* / Q000201:enzymology; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000009:adverse effects / Q000493:pharmacokinetics / Q000627:therapeutic use*; D006801:Humans
D005962:Glucosylceramidase