Definition:
Hepatolenticular degeneration is an autosomal recessive disease that usually features the presence of copper deposits in organs such as the brain, cornea and liver. It is a result of genetic mutations at the ATP7B gene that encodes copper transporting ATPase 2. The disease can cause neurological problems that can lead to liver cirrhosis, ataxia and intellectual degeneration.
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hepatolenticulardegeneration
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