Gaucher disease results from abnormal deposits of a fatty substance, known as glucocerebroside or also called glucosylceramide. Normally, glucocerebroside is metabolized (broken down) by an enzyme called glucocerebrosidase (acid β-glucosylceramidase). In people with Gaucher disease, the gene that would normally tell the body to produce this enzyme is altered (often called a gene mutation). This alteration means that the enzyme does not work properly or is completely absent. This in turn leads to a build-up of glucocerebroside in cells. It is because of this build-up that Gaucher Disease is refered to as a storage disorder, and because the build-up happens in a part of the cell called the lysosome it is called a lysosomal storage disorder (also known as lysosomal storage disease). Accumulation of lipids in cells in the liver, spleen and bones can interfere with some of the normal processes of the body.
Gaucher is different for everyone, with symptoms varying considerably from person to person. Some people experience severe symptoms in childhood, while some people have no symptoms or only mild symptoms and are diagnosed later in life.