Wilson disease or hepatolenticular degeneration is an inherited disorder involving toxic accumulation of copper in the liver and the central nervous system (CNS). Accumulation in the CNS usually occurs in the sites of the basal ganglia and globus pallidus. These symptoms are all due to a failure of copper excretion by the liver.

What is Wilson Disease

It is an autosomal recessive disorder where there is a mutation on the ATP7B gene, an ATPase, which is a copper transporter on chromosome 13. There are many known mutations but the most common is HIS1069GLU which is most common in the European population.The incidence of Wilson's disease is 3 in 100 000.

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