Open AccessGaucher′s disease
Author(s) -
Vijay Bohra,
Velu Nair
Publication year - 2011
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.83402
Subject(s) - medicine , enzyme replacement therapy , disease , substrate reduction therapy , lysosomal storage disorders , presentation (obstetrics) , intensive care medicine , genetic enhancement , pediatrics , bioinformatics , pathology , surgery , gene , genetics , biology
Gaucher's disease (GD) is the most common amongst the various disorders classified under the lysosomal storage disorders. GD is a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. The multiorgan and varied presentation of the disease makes it a challenge to diagnose GD early. The advent of enzyme replacement therapy in the early 1990s changed the management, and survival, of patients with GD. In addition to this, development of substrate reduction, pharmacological chaperone, and gene therapies has broadened the horizon for this rare disease. However, in resource-poor countries like ours, optimal management is still a distant dream.