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lüll Recognition, diagnosis, and management of Wilson s disease Brewer GJProc Soc Exp Biol Med 2000[Jan]; 223 (1): 39-46Wilson's disease is a relatively rare inherited disorder of copper accumulation and toxicity, caused by a defect in an enzyme that is part of the pathway of biliary excretion of excess copper. Clinically, patients usually present as older children or young adults with hepatic, neurologic, or psychiatric manifestations, or some combination of these. Wilson's disease is unusual among genetic diseases in that it can be very effectively treated. The prevention of severe permanent damage depends upon early recognition and diagnosis by the physician, followed by appropriate anticopper treatment. Anticopper treatments have evolved considerably since the days when the only drug available was penicillamine. Zinc is now the recommended therapy for long-term management of the disease.|Adolescent[MESH]|Adult[MESH]|Chelating Agents/*therapeutic use[MESH]|Child[MESH]|Copper/metabolism[MESH]|Hepatolenticular Degeneration/*diagnosis/*drug therapy/physiopathology[MESH]|Humans[MESH]|Penicillamine/therapeutic use[MESH]|Trientine/therapeutic use[MESH]|Zinc/therapeutic use[MESH] |