Gaucher disease is a rare genetic disorder that affects many of the bodys organs and tissues. It is caused by low levels of an enzyme called glucocerebrosidase (GCase), which breaks down a fatty chemical in the body called glucocerebroside. As a result, fatty materials can build up in the brain and other organs. Gaucher disease is inherited in an autosomal recessive pattern, which means that both parents must pass one abnormal copy of the disease gene to their child in order for the child to develop the disease.

There are three main subtypes of Gaucher disease:

• Type 1: This is the most common form of the disease and usually does not affect the brain. Symptoms may begin early in life or in adulthood, and many people with a mild form of the disease may not show any signs. Symptoms of type 1 can include bone disease, anemia, an enlarged spleen, and low platelets.

• Type 2: This form of the disease affects babies by age 3 to 6 months and is fatal. In most cases, children don’t live beyond 2 years old. Symptoms of type 2 can include extensive brain damage, seizures, spasticity, and an enlarged liver and spleen.

• Type 3: Symptoms of type 3 can include liver, spleen, and brain problems. People with this type may live into adulthood. Skeletal irregularities, seizures, and signs of brain involvement are also common.

Symptoms of Gaucher disease can vary widely among affected individuals, even within the same type. Some people who have Gaucher disease have only mild or no symptoms, while others may experience abdominal complaints, skeletal abnormalities, blood disorders, and more rarely, brain involvement.