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
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A world of hope for families and
individuals with Gaucher Disease
Shou
Know
About
Gaucher
Disease