WILSON’S DISEASE

WILSON’S DISEASE is a topic covered in the Harrison's Manual of Medicine.

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Wilson’s disease is a rare inherited disorder of copper metabolism, resulting in the toxic accumulation of copper in the liver, brain, and other organs. Individuals with Wilson’s disease have mutations in the ATP7B gene, which encodes a membrane-bound copper-transporting adenosine triphosphatase (ATPase). Deficiency of this protein impairs copper excretion into the bile and copper incorporation into ceruloplasmin, leading to its rapid degradation.

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