Hello and welcome to the zero to finals podcast. My name is Tom and in this episode I'm going to be

talking to you about Wilson's disease. And you can find written notes on this topic at zero

to finals.com slash wils or in the gastroenterology section of the zero to finals medicine book.

So let's get straight into it.

Wilson's disease is an autosomal recessive genetic condition resulting in excessive

accumulation of copper in the body tissues, particularly in the liver.

It's caused by mutations in the Wilson disease protein gene on

chromosome 13. This is also called the ATP7B copper binding protein. This copper transporting protein is

important in helping remove excess copper from the body via the liver.

Copper is excreted in the bile.

Let's start by talking about the features.

Wilson's disease typically presents in teenagers or young adults,

and it's rare for symptoms to start after the age of 40.

The presenting features vary significantly between individuals.

Liver problems usually arise first.

Rarely it can present initially with neurological or psychiatric problems,

although these typically occur with more advanced disease.

Deposites of copper in the liver lead to chronic hepatitis or inflammation in the liver,

which eventually leads to liver cirrhosis.

Copper deposits in the central nervous system can lead to neurological and psychiatric problems.

Neurological symptoms can include tremor, dysarthria, which is speech difficulties, and dystonia, which is abnormal muscle tone.

Copper deposition in the basal ganglia in the brain causes

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