Hepatolenticular Degeneration
Hepatolenticular Degeneration 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.