Gaucher Disease (Cerebroside Lipidosis Syndrome)

Gaucher's disease is a rare genetic disorder. Gaucher's disease is a condition in which glucocerebroside is formed in the bones, lungs, liver, and spleen; however brain may also get affected in some rare cases. The formation of glucocerebroside restricts the organs to function properly. Gaucher's disease is a condition in which some harmful fatty material builds up to excessive levels in lungs, bone marrow, liver, spleen and, less frequently brain. The accumulation of these fatty substances in tissues affects the functioning of the body resulting in enlargement of organ and pain in the bones.

CAUSES

Gaucher's disease is usually caused due to the deficiency of enzyme glucocerebrosidase. Enzyme glucocerebrosidase helps in breaking down the fatty material known as glucocerebrosides. Gaucher's disease is an inherited disease, which passes on to the child if both the parents are carrier of gaucher's gene. In case of both the parents being carriers of the gaucher's gene, there are only 25 percent chances in a child to develop gaucher's disease.