Is when copper accumulates in tissues of the body.

It is seen as changes or problems with neurological and psychiatric symptoms

It can also cause liver disease

Is classified as an Autosomal recessive disorder – 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 – world wide it is 30 per million

Excess deposits of copper into liver and brain is progressive in nature
Other organs that can be involved are kidney, heart, eyes

Symptoms:
- Can present as liver disease in younger adults:
- Enlarged spleen
- Portal hypertension
- cirrhosis,
- 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

Treatment:
- Dietary monitoring
- Oral penicillamine is drug of choice
- Oral pyridoxine is added as well
- Zinc
- Liver transplant

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