1932

Abstract

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.

Loading

Article metrics loading...

/content/journals/10.1146/annurev.genom.4.070802.110415
2003-09-01
2024-07-18
Loading full text...

Full text loading...

/content/journals/10.1146/annurev.genom.4.070802.110415
Loading
/content/journals/10.1146/annurev.genom.4.070802.110415
Loading

Data & Media loading...

  • Article Type: Review Article
This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error