Ashkenazi Disorders: Mendelian

Gaucher Disease

This disease is caused by the deficiency of an enzyme called beta-glucosidase. This enzyme is involved in breaking down a specific fatty substance in the body. Lack of this enzyme causes this fatty substance to accumulate in the bone marrow, spleen, liver, and other parts of the body, and can result in anemia, low platelet count and easy bruising and bleeding, bone pain, and bone fractures, even with little trauma. There are three forms of the disorder. The brain can be affected in some forms of the disorder. However, in type I, the form most common in the Jewish population, the brain is not affected. Treatment is available through replacement of the deficient enzyme. With treatment, individuals have a normal lifespan.

Disease frequency:About 1 in 1,000 in Jews.
Carrier frequency:As high as 1 in 10 in Jewish population.
Diagnosis:By measurement of beta-glucosidase in the blood or by testing of Gaucher disease gene.
Inheritance:Autosomal Recessive
Carrier testing:Available by genetic testing of Gaucher disease gene. Testing can identify approximately 95% of carriers.
Prenatal diagnosis:Available for couples who have had an affected child or to couples who are found to be at risk through carrier testing.

Technical Information on Gaucher Disease

Additional Information:
National Gaucher Foundation
5410 Edson Lane, Ste. #260
Rockville, MD 20852
(800) 428-2437
fax: (301) 816-1516

Gauchers Association UK
Tower Hematology Oncology – Comprehensive Gaucher Treatment Center

Mount Sinai Comprehensive Gaucher Disease Treatment Center

Researching Disease: Dr. Roscoe Brady & Gaucher Disease

Russian Language Information:
Gauchers Association UK

Israeli Gaucher Association