Gaucher’s Disease

Gaucher's (pronounced ‘go-shey’) disease is a rare inherited disorder (meaning genetically linked) that affects many of the body's organs and tissues. In general population this disease affects 1 in 50,000 to 1,00,000 (0.001%) people.

The symptoms of this biochemical disorder vary and the major features of this disorder include enlarged liver and spleen (hepatosplenomegaly). This is an enzyme (a biocatalyst) deficiency disorder. The enzyme that is deficient is acid beta-glucosidase (aka, glucocerebrosidase, among other names). Deficiency in turn is caused by mutation in the GBA gene (refers to Glucosidase, Beta; Acid). As a result, affected person’s body is unable to break down certain types of fat leading to the accumulation of glucocerebroside in multiple organs causing hepatosplenomegaly.

Treatments available for this condition are enzyme replacement therapy (injecting the subject with the extraneously made enzyme), or surgical removal of part of spleen and/or liver to improve affected person’s comfort.

This disease is named after French physician Philippe Gaucher, who originally described this condition way back in 1882. The biochemical basis of this disease was discovered in 1965 and the treatment for the disease has been available since 1990s.

Contributor: Duraiswamy Navaneetham PhD.

Temple University School of Medicine

Philadelphia, PA, USA

July 2009