What is Gaucher disease?
Gaucher disease is an inherited condition caused by a mutation in the gene that encodes acid ß-glucosidase.1,2
- It affects males and females equally. People who have Gaucher disease will have inherited the defective gene from both their mother and father.1,3
- Acid ß-glucosidase is an enzyme used to break down a fatty product naturally produced by your body called glucosylceramide.1,2
People with Gaucher disease have a defective gene that stops the enzyme acid ß-glucosidase from working properly. As a result, your body cannot effectively break down glucosylceramide, causing a build-up in a type of cell called a macrophage.1,2
- The macrophages eventually become bloated, which stops them from working efficiently.1,2
- These bloated cells, referred to as Gaucher cells, deposit themselves in different organs and parts of your body, including bone marrow, liver, lungs and spleen.1,2
- This may cause various symptoms which you may have already experienced, such as an enlarged spleen or liver, bruising or bleeding and bone pain.1,2
- NIH National Human Genome Research Institute. https://www.genome.gov/Genetic-Disorders/Gaucher-Disease. Accessed March 2021.
- Nagral A. J Clin Exp Hepatol, 2014;4(1):37–50. Accessed March 2021.
- Gaucher Care. https://www.gauchercare.com/inheriting-gaucher-disease. Accessed March 2021.