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.

References:

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