An Important Message for the Jewish Community What Is Gaucher Disease and Who Can Be Affected? (pronounced go-shay) Gaucher disease is an inherited disorder caused by a deficient form of an important enzyme called glucocerebrosidase. This enzyme is needed for the breakdown of a type of fatty substance (glucocerebroside) that can build up in cells, especially in the spleen, liver, and bone marrow. People who have inherited a mutation (change) in the gene that produces glucocerebrosidase can be affected by the symptoms of Gaucher disease. Certain groups, such as families of Jewish descent, are at a higher risk of inheriting Gaucher disease. A simple blood test can determine if a person is at risk. • An enzyme deficiency in glucocerebrosidase results in the accumulation of a fatty substance in the spleen, liver, and bone marrow If you believe you or someone you know may be affected by Gaucher disease, please contact us at: I-800-981.9954 The National Gaucher Foundation (NGF) 11140 Rockville Pike, Suite 350 Rockville, MD 20852-3106 Help Is Available • Testing is important because Gaucher disease can be misdiagnosed as leukemia or arthritis Symptoms Include: • Fatigue • Anemia • Easily fractured bones • Bleeding problems such as nosebleeds and easy bruising • Enlarged spleen or liver • Bone pain 0 A world of hope for families and individuals with Gaucher Disease Shou Know About Gaucher Disease