It could be
LOCAL BIOCHEMISTRY DEPARTMENT
Gaucher disease is an inherited condition caused by a mutation in the gene that encodes acid ß-glucosidase.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
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