Gaucher’s Disease

Gaucher’s Disease is a genetic disorder where a person lacks an known as glucocerebrosidase.Gaucher’s disease is an autosomal recessive disease meaning that the father and the mother must both pass an abnormal copy of the gene to their child such that the child develops the disease. One of the parents who silently possess a gene’s abnormal copy is called a carrier.Harmful substances start building up in the spleen, liver, bone and bone marrow if there is a lack of glucocerebrosidase. These harmful substances restrict the cells and organs from functioning properly. Some of the symptoms include:

• Bone fracture and pain
• Fatigue
• Easy bruising
• Enlarged liver
• Enlarged spleen
• Seizures
• Skin changes
• Lung disease