Gaucher Disease is an autosomal recessive disease and the most common Lysosomal Storage Disorder. It is caused by deficiency of a specific enzyme in the body, caused by a genetic mutation received from both parents.
Gaucher disease (pronounced go-shay disease) is an inherited disorder. Symptoms of the disease can vary from very mild to severe, and they can appear at any time, from infancy to old age. In affected individuals, however, the genetic cause is present from the time of conception.
Gaucher disease can be diagnosed as either type 1, type 2 or type 3.
Individuals of any ethnic or racial background, including blacks and Hispanics, may be affected but type 1 is more prevalent among people of Jewish origin.
This section is designed to guide you around the parts of our website that will provide you with some information about Gaucher disease and answer some of the common questions that we get asked.
Please click here to find some answers to questions that you might have if you are living with Gaucher disease or have just been diagnosed.
The Gauchers Association is the only registered UK charity providing support to individuals and families affected by Gaucher Disease.
Gaucher disease (pronounced go-shay disease) is an inherited disorder. Symptoms of the disease can vary from very mild to severe, and they can appear at any time, from infancy to old age. In affected individuals, however, the genetic cause is present from the time of conception.
There are many ways for members, their friends and family to become involved in the Association.
