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
know may be affec
disease, please c

1-800-98:

The National Gaucher
11140 Rockville Pi
Rockville, MD 2(

• 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

NATIONAL GAUCHER F

A world of hope for f
individuals with Gauc