Gaucher Disease

Gaucher disease is an inherited illness caused by a gene mutation. Normally, this gene is responsible for an enzyme called glucocerebrosidase that the body needs to break down a particular kind of fat called glucocerebroside.

In people with Gaucher disease, the body is not able to properly produce this enzyme, and the fat can not be broken down. It then accumulates, mostly in the liver, spleen, and bone marrow. Gaucher disease can result in pain, fatigue, jaundice, bone damage, anemia, and even death.

Additional information:

IGA – International Gaucher Alliance 

Orphanet – The portal for rare diseases and orphan drugs


Lysosome Illustration*
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