Abstract

GAUCHER’S DISEASE: THE MOST COMMON LYSOSOMAL STORAGE DISORDER

A. S. Ezhilarasi*, Sereena Saju, Mehnaaz Anjum H., Jesipher C. Hannah, Namitha Cheriyan and A. Meena

ABSTRACT

Gaucher’s disease occurs due to the defective function of catabolic enzyme β- glucocerebrosidase (GBA). Defective function of β-glucocerebrosidase will lead to an accumulation of its substrate, called glucocerebroside. The prodrome of gauchers disease includes neutropenia, thrombocytopenia, neurological dysfunctions, bone infarcts, bone malformations, hepatosplenomegaly and hypersplenism leading to anemia. Enzyme replacement therapy with recombinant GBA is the mainstay of treatment for Gaucher’s disease (GD), which became the first successfully managed lipid storage disease. This review article focuses on the etiology, pathophysiology, signs and symptoms, treatment of gaucher’s disease.

Keywords: Glucocerebrosidase, Gaucher cells, Enzyme replacement therapy, Substrate replacement therapy.