Gaucher Disease

What is Gaucher disease?

Gaucher disease is caused by the body not having enough of a specific enzyme called beta-glucocerebrosidase. Without normal levels of this enzyme in the body, certain fats build up and cause damage to several parts of the body including the nervous system, heart, spleen and liver. There are five different forms of Gaucher disease, each with somewhat different signs and symptoms. Some early signs of Gaucher disease that can begin just after birth are seizures, a larger than normal spleen or liver, and abnormal eye movement. Some people with Gaucher disease don’t experience any symptoms until adulthood.

How common is Gaucher disease?

About 1 in 50,000 babies is born with Gaucher disease in the United States each year.

What can be done for Gaucher disease?

People with Gaucher disease can be given a form of treatment that replaces the missing beta-glucocerebrosidase enzyme - this is called enzyme replacement therapy (ERT). Some people with Gaucher disease also need to take a daily medication by mouth. While ERT and daily medication aren’t a complete cure for Gaucher disease, it can make many of the symptoms less severe, helping people with Gaucher live longer, fuller lives.

How is Gaucher disease inherited?

Gaucher disease is caused by changes in the GBA gene. It is a recessive inherited condition, which means that a person must inherit two altered copies of the GBA gene, one from each parent, in order to have the disease. People who have only one copy of the altered GBA gene are called carriers, and are not expected to have symptoms of the condition. If a baby is identified as a carrier for Gaucher disease through Eli screening, genetic counseling and additional testing in the parents is recommended.

References

https://ghr.nlm.nih.gov/condition/gaucher-disease#
https://www.ncbi.nlm.nih.gov/books/NBK1269/

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