Gaucher disease is an inherited autosomal recessive genetic condition that causes fats to build up in certain organs and bones.

Individuals with Gaucher disease do not have sufficient glucocerebrosidase, the enzyme that breaks down the fat molecule glucocerebroside. The body accumulates this fatty substance in the lysosomes, classifying the disease as a lysosomal storage disease.

The build-up in the liver, spleen, bone marrow, and occasionally the lungs can cause symptoms such as bone pain, anaemia, enlarged spleen and liver, and breathing problems. The bone symptoms can result in severe pain, damage to joints, and fractures.