Gaucher-like disease
Overview
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside. Gaucher-like disease has different signs and symptoms than the three other recognised types of Gaucher disease, although they are caused by mutations in the same gene.
Symptoms
* Calcification of heart valves * Cloudy corneas * Eye movement difficulty * Bone disease * Enlarged spleen
Causes
Mutations in the GBA gene cause Gaucher-like disease. Gaucher-like disease occurs when a person has a specific, rare mutation in two copies of the GBA gene that leads to extremely low levels of an enzyme called beta-glucocerebrosidase. This enzyme usually breaks down a lipid called glucocerebroside into a sugar (glucose) and a simpler fat molecule. Without functional beta-glucocerebrosidase, glucocerebroside can build up in the body's cells. The abnormal accumulation of this substance damages tissues and organs, causing the characteristic features of Gaucher-like disease.