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What is Gaucher disease?

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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

Useful links

Gaucher Association

UK-based charity dedicated to raising awareness of Gaucher disease, by providing support and information to those affected and their families.

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References:

  1. NIH National Human Genome Research Institute. https://www.genome.gov/Genetic-Disorders/Gaucher-Disease. Accessed March 2021.
  2. Nagral A. J Clin Exp Hepatol, 2014;4(1):37–50. Accessed March 2021.
  3. Gaucher Care. https://www.gauchercare.com/inheriting-gaucher-disease. Accessed March 2021.