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

Useful links

Gauchers Association

UK-based charity dedicated to raising awareness of Gaucher Disease, supporting those affected and their families.

Providing support and information for
those affected by Gaucher disease.


1. NIH National Hu man Genome Research Institute. https://www.genome.gov/25521505
2. Nagral A. J Clin Exp Hepatol, 2014;4(1):37-50.
3. Gaucher Care. https://www.gauchercare.com/en/patient/genetics/inheritingGaucher.aspx