LSDDB

Gaucher Disease

This is a disease which is caused due to the deficient activity of enzyme glucocerebrosidase. The enzyme is also called as β Glucosidase (GBA). Deficient activity of this enzyme leads to the accumulation of glycosylceramide and other glycolipids in macrophages, spleen, liver, bone marrow, brain, osteoclasts, kidneys and heart. There are type 1, type 2 and type 3 forms of the disease. Type 1 is a non neuronopathic form and type 2 and 3 are neuronopathic forms. Type 2 is a more severe form of Gaucher disease leading to death by 2 years of age. The gene encoding the enzyme GBA is located at 1q21 (Nagral, 2014).

Reference :
Nagral, A. (2014) ‘Gaucher Disease’, Journal of Clinical and Experimental Hepatology, 4(1), pp. 37–50. doi: 10.1016/j.jceh.2014.02.005.