NINDS Gaucher Disease Information Page

What is Gaucher Disease?

Gaucher disease is the most common of the inherited metabolic disorder known as lipid storage diseases.  Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen).  Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase.  Fatty materials can accumulate in the spleen, liver, lungs, bone marrow, and brain.  Symptoms may include skeletal disorders, enlarged spleen and liver, liver malfunction, anemia, and yellow spots in the eyes.  There are three clinical subtypes of Gaucher disease. The first category, called type 1 (or nonneuropathic), is the most common. Symptoms may begin early in life or in adulthood.  People in this group usually bruise easily due to low blood platelets and experience fatigue due to anemia  They also have an enlarged liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. There are no signs of brain involvement. Symptoms can appear at any age. Many individuals may have a mild form of the disorder and not show any symptoms.  In type 2 Gaucher disease (acute infantile neuropathic Gaucher disease), liver and spleen enlargement are apparent by 3 months of age. Individuals usually die before 2 years of age. In the third category, called type 3 (or chronic neuropathic Gaucher disease), liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent. Major symptoms also include skeletal  irregularities, eye movement disorders, seizures, respiratory problems and blood disorders.  

Is there any treatment?

What is the prognosis?

What research is being done?