WHAT IS TYPE 1 GAUCHER DISEASE?

Gaucher disease is hereditary, which means that it is passed down from parents to children through their genes. Gaucher disease is caused by changes (mutations) in the gene that makes the enzyme glucocerebrosidase, which breaks down fatty substances.

An individual receives two copies of each gene – one from each parent. Two copies of the mutated gene are necessary for Gaucher disease to develop. If someone has only one copy of the gene, they are not affected, and typically do not show signs and symptoms of Gaucher disease, but they are what is known as carriers. There is a chance that the children of two carriers will inherit Gaucher disease. Therefore, family screening is recommended, particularly if there is any history of the disease.