Wilson’s Disease is when Copper, potential toxic, 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.

There is a mutation of a gene called “Wilson disease protein gene”.

Is seen in 1/100 of individuals – most are just carriers.

However, when two parents are carriers then the child could inherit the gene from both parents

Quite rare in the world – it is seen in 30 individuals per 1 million.

Excess deposits of copper into liver and brain is progressive in nature.

Other organs that can be involved are kidney, heart, 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 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


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