Enzyme therapy for lysosomal storage disease: principles, practice, and prospects.
Over the past three decades, enzyme therapy for lysosomal storage diseases has moved from an academic pursuit to direct delivery of effective clinical care for affected patients and families. This success is based on understanding the complexities of lysosomal biogenesis, lysosomal hydrolase sorting and hydrolytic requirements, and the target sites of pathology of these diseases. This article reviews these concepts and their application to the treatment of affected patients with Gaucher disease, Fabry disease, and mucopolysaccharidosis I. The principles, progress, and practice in these diseases provide prototypes for expansion of enzyme therapy to a growing set of these diseases.
Grabowski
Gregory A
GA
The Division and Program in Human Genetics, Cincinnati Children's Hospital Research Foundation, Cincinnati, Ohio, 45229-3039, USA. greg.grabowski@chmcc.org
Hopkin
Robert J
RJ
D006801:Humans; D006867:Hydrolases / Q000627:therapeutic use*; D016464:Lysosomal Storage Diseases / Q000628:therapy*; D008247:Lysosomes / Q000201:enzymology
D006867:Hydrolases