Gaucher disease is a metabolic disorder in which the body lacks an enzyme needed to break down a fatty substance called glucocerebroside.
Glucocerebroside and other associated substances can build up in the body causing various symptoms, including affecting bone development, enlarged liver and spleen, and neurological problems like cognitive and motor delays. Gaucher disease can affect individuals at any age and symptoms vary from mild to severe.
Gaucher disease is caused by pathogenic (disease-causing) variants in the GBA gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. Individuals of Ashkenazi Jewish descent have a 1 in 15 chance of being carriers of Gaucher disease.
Carriers of this condition have an increased risk for Parkinson disease later in life (up to 15% lifetime risk). However, most carriers do not get Parkinson disease. If you are found to be a carrier, a genetic counselor will talk to you in more detail about this risk and what it means.
Another name for this condition is GBA-related condition, glucocerebrosidase deficiency, glucocerebrosidosis, glucosyl cerebroside lipidosis, glucosylceramidase deficiency, kerasin histiocytosis, kerasin thesaurismosis, and lipoid histiocytosis (kerasin type).
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Revised October 2023
