Gaucher disease

Gaucher disease is a rare genetic disorder where the body lacks an enzyme called glucocerebrosidase, which helps break down a fatty substance called glucocerebroside. Without this enzyme, the fatty material accumulates mainly in spleen, liver, bone marrow, and other organs, leading to symptoms like enlarged organs, bone pain, anemia, and fatigue. It is inherited in an autosomal recessive manner, meaning both parents must pass on the faulty gene. Treatments such as enzyme replacement therapy can help reduce symptoms and improve quality of life.