Wilson’s Disease

Wilson’s Disease is when Copper, a common but potentially toxic metal, accumulates in tissues of the body. This can be seen as changes or problems with neurological and psychiatric symptoms. It can also cause liver disease or damage.

It can be classified as an Autosomal recessive disorder that occurs typically between 1st and 3rd decades. This condition occurs when there is a mutation of a gene called “Wilson disease protein gene”. It is seen in 1/100 of individuals – most of whom are just carriers.

However: When two parents are carriers then the child could inherit the gene from both parents. It is quite rare in the world to be seen – it is seen in 30 individuals per 1 million.

What to Understand

With excess deposits of copper into the Liver and Brain is progressive in nature. Other organs that can be involved are Kidney, Heart, and Eyes.

Wilson’s disease is so named because of Dr. Samuel Alexander Kinnier Wilson (1878-1937). Wilson was a British neurologist who described the condition in 1912.


– Can present as liver disease in younger adults:
– Enlarged spleen
Portal Hypertension
– Corneal abnormalities are known as Kayser-Fleisher ring
– Weakness
– Fatigue

50% of individuals have neurological symptoms

– Falling
– Clumsy
– Parkinsonism (increased rigidity and slowing of routine movements)
– Tremor
– Ataxia
– Dystonia


–  Liver biopsy and blood work is helpful

–  Ceruloplasmin is important to determine the level


– Dietary monitoring
– Oral penicillamine is drug of choice
– Oral pyridoxine is added as well
– Zinc
– Liver transplant