Metabolic, Biliary Atresia & Related Diseases
Wilson’s disease is a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. Most people with Wilson’s disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well.
Copper plays a key role in the development of healthy nerves, bones, collagen and scin. Normally, copper is absorbed from your food, and excess is excreted through a substance produced in your liver (bile). In people with Wilson’s disease, copper isn’t eliminated properly and instead accumulates, possibly to a life-threatening level. When diagnosed early, Wilson’s disease is treatable, and many people with the disorder live normal lives.
Wilson’s disease is present at birth, but signs and symptoms don’t appear until the copper builds up in the brain, liver or other organ. Signs and symptoms vary widely and can include:
- Fatigue, lack of appetite or abdominal pain
- A yellowing of the skin and the whites of the eye (jaundice)
- Golden-brown eye discoloration (Kayser-Fleischer rings)
- Fluid buildup in the legs or abdomen
- Problems with speech, swallowing or physical coordination
- Uncontrolled movements or muscle stiffness