Abstract

OVERVIEW OF GAUCHER DISEASE AND ITS MANAGEMENT

Kalyani Katakam*, Perasani Umarani and Makiabadi Fereshteh

Abstract

Gaucher disease (GD) is an inherited, rare, lysosomal storage disorder caused by a genetic deficiency of glucocerebrosidase. enzyme replacement therapy has been the mainstay of treatment with its major disadvantage of long life dependency on biweekly IV therapy. It was more than a decade later when the substrate reduction therapy – an oral treatment – was approved for Gaucher disease. Future therapeutic modalities will include pharmacological chaperon and possibly gene therapy. The aim of this review is to high light the gaucher disease and its management.

Keywords: Definition Epidemiology Classification Diagnosis management.