2.1
Gaucher disease is an inherited lysosomal storage disorder. It is caused by deficiency of the enzyme glucocerebrosidase. This deficiency leads to the inappropriate storage of complex lipids in some types of cell. This creates Gaucher cells, which occur throughout the liver, spleen, bone marrow and occasionally the lungs. There are 3 subtypes of Gaucher disease, of which type 1 (non-neuronopathic) is the most prevalent. All types of Gaucher disease are associated with a variety of symptoms, including pain, fatigue, anaemia, thrombocytopenia, jaundice, bone damage, and liver and spleen enlargement.