Gaucher's disease is a rare hereditary illness that impairs the body's ability to break down a type of fat molecule known as glucocerebroside. This disorder is caused by mutations in the GBA gene ...

Gaucher is a genetic disease where glucocerebroside accumulates in cells and certain organs, with symptoms including fatigue, anaemia, low blood platelet count and enlargement of the liver and spleen.

Gaucher disease is caused by an inherited defect in an enzyme that the body uses to break down a fatty substance called glucocerebroside. When this substance is not broken down, it accumulates in ...