A rare autosomal recessive disease characterized by the deposition of copper in the ; ; ; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 184.108.40.206), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as ; ; and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.
Morbus Wilson /
Neurohepatische Degeneration /