What is Gaucher Disease?
Gaucher disease is a rare genetic disorder that is one of a group called lysosomal storage disorders. It is an inherited disorder that results in the accumulation of fatty molecules called cerebrosides in the body’s organs and tissues.
It is caused by a missing or deficient enzyme called ‘glucocerebrosidase‘.1 In people with Gaucher disease, the gene that would normally tell the body to produce this enzyme is altered (often called a gene mutation).
The main signs and symptoms are an enlarged liver and spleen, low platelet and haemoglobin counts, and problems with bones and joints.
Gaucher disease symptoms vary widely and there are many people who live without any symptoms.
1. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008 Oct 4;372(9645):1263-71.
2. Charrow J. The Gaucher Registry: Demographics and Disease Characteristics of 1698 patients with Gaucher disease. Archives of Internal Medicine 2000;160:2835-2843
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