WILSON DISEASE

Liver + Brain

Wilson’s Disease is copper overload. 

Cause? 

It’s genetic. Specifically it’s autosomal recessive mutation of the ATP7B gene on c13. ATP7B is a pump that transports copper. 

Symptoms?

Symptoms occur wherever copper accumulates. Symptoms begin in young adulthood.

• Copper’s stored in the liver. The liver is damaged in Wilson disease. The classic patient is a non-alcoholic 40 year old who gets cirrhosis. 

• Randomly, copper also accumulates a part of the brain’s basal ganglia called the lenticular nucleus. That leads to Parkinsonian symptoms. It accumulates in other neurons as well, producing a wide variety of neurological and psychological symptoms. 

• Copper also accumulates in the eye. Specifically it sets up shop in parts of the cornea (Descemet’s membrane) that produces a copper-colored ring around the iris called a Kayser-Flescher ring.