Gaucher disease is a genetic disorder that was causing a defect in a certain enzyme. This lack of enzyme will result in accumulation of glucocerebroside.
Since it is a genetic disorder, all of the patients would be a child that still growing. The symptoms could impede their growth and might be resulting in a permanent disability. If the patient diagnosed early, enzyme replacement therapy can reduce the symptoms and allow the patient to grow disturbance, preventing long term damage.
