Gaucher's Disease

Disease characteristics
Gaucher's disease is the most common of the lysosomal storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase, leading to an accumulation of a fatty substance, which can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.

Prevalence
The National Gaucher Foundation states that1 in 100 people in the general U.S. population is a carrier for type 1 Gaucher's disease, the rate of carriers is considerably higher, 1 in 15, among Ashkenazi Jews.

Mutation
A single known mutation is the major cause of the Gaucher’s disease Type I, the most common form. This mutation occurs at position N370S amino acid sequence of the enzyme glucocerebrosidase.

Testing criteria and symptoms
Being of Ashkenazi Jewish ancestry
Enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions
Severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints
Distended abdomen, a brownish tint to the skin, anemia, and low blood platelets's