Rare Diseases

Gaucher Disease is a rare autosomal recessive inherited multisystem disease with phenotypic variation from mild to very severe. It is the most common lysosomal storage disorder which occurs due to the deficiency of an enzyme β-glucocerebrosidase that helps in degrading glucocerebroside into glucose and ceramide. Lack of degradation of glucocerebroside into glucose and ceramide results in accumulation of glucocerebroside within the lysosomes. Gaucher Disease is classified as Type 1 Gaucher Disease, Type 2 Gaucher Disease, and Type 3 Gaucher Disease on the basis of symptoms and course of the disease. The treatment of Gaucher Disease apart from the Enzyme Replacement Ther...