Inborn Error of Lysosomal Metabolism
Fabry disease is an inherited condition caused by a faulty gene. In Fabry disease, an enzyme the body needs to break down a certain type of fat is missing or not working properly. As a result, the fat builds up in the blood and the walls of blood vessels. Symptoms of Fabry disease may include pain, burning in the hands and feet, and vision problems. Over time the disease can lead to severe kidney and heart problems. It can be treated by giving an infusion that replaces the missing enzyme. It is now becoming possible to diagnose Fabry disease in newborns.