Abeer Fatimaover 1 year ago

Gaucher Disease

Gaucher disease is a storage disease that is characterized by accumulation of fatty substances attributed to absence of enzymes. The lipids accumulate in liver and spleen causing hepatosplenomegaly. The fatty substance can also accumulate in bones which consequently increases risk of fractures. People with Gaucher disease presents with abdominal complaints, blood disorders, and skeletal abnormalities. In rare cases, brain, eyes, and muscles may also be involved. The treatment of Gaucher disease is enzyme replacement therapy. Reference: https://www.mayoclinic.org/diseases-conditions/gauchers-disease/symptoms-causes/syc-20355546 Image via: https://www.nature.com/articles/gim20062