Gaucher disease is a hereditary metabolic disease in which glucocerebroside, a form of fat (lipid), is unable to breakdown. Glucocerebrosidase is an enzyme that breaks down and reprocesses glucocerebroside in the human body. Gaucher disease is caused by mutations in the GBA gene, which results in very low levels of the glucocerebrosidase enzyme, which causes glucocerebroside breakdown to be slow. Gaucher disease is characterized as one of three types: type 1, type 2, or type 3. Gaucher disease is classified into type 1, type 2, and type 3. Type 1 is the most frequent, whereas type 2 and type 3 are less common.
