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What is Gaucher disease?

Georgina story, play video, living with Gaucher, Childs perspective

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.



  1. NIH National Human Genome Research Institute. Accessed March 2021.
  2. Nagral A. J Clin Exp Hepatol, 2014;4(1):37–50. Accessed March 2021.
  3. Gaucher Care. Accessed March 2021.