Who gets Gaucher Disease

Who gets Gaucher disease?
Gaucher disease is inherited or caused by genes passed down through an individual's parents. Gaucher disease is not gender specific and its signs and symptoms may appear in affected individuals at any age, although Types 2 and 3 are most commonly diagnosed in childhood. Although individuals from any ethnic or racial background may develop Gaucher disease, Type 1 Gaucher disease is most common among Jews of Ashkenazi (Eastern European) descent. Among this group, 1 in 400-600 people has Gaucher disease¹.

How Gaucher disease is passed on
Genes form the blueprint of heredity. They help guide our body's growth and development and determine traits such as eye colour and height. People inherit two copies of every gene, one from each parent. The gene that controls the production of the enzyme glucocerebrosidase is passed from parent to child, just like all the other genes. When a person inherits two normal Gaucher genes (one from each parent) everything is normal. Even when a person inherits one normal and one mutated gene - such a person is described as a carrier - the person will still be unaffected by Gaucher disease. It is only when the person inherits two mutated genes that a patient can be described as having Gaucher disease. In this case an insufficient quantity of the enzyme is produced or the available enzyme does not function properly. Gaucher disease is referred to as an autosomal recessive disorder, meaning that the affected gene is located on one of the non-sex chromosomes and that a mutated gene must be inherited from both parents for the disease to produce disease.

¹ Damiano AM, Pastores GM, Ware, JE. Jr. The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study. Qual. Life Res. 1998; 7:373-386; Morales, LE. Gaucher’s Disease: A Review. Ann Pharmacother 1996;30:381-8.