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Introduction Free copper accumulation in many tissues (liver, brain, cornea, joints) also known as hepatolenticular degeneration mutation in ATP7B results in free copper generates free radicals that damage tissues see Metabolism of copper topic AR inheritance Presentation Symptoms Parkinson-like symptoms hemiballismus dementia Physical exam cirrhosis corneal deposits on slit lamp examination Evaluation total serum copper serum non-ceruloplasmin bound copper urine/serum free copper hemolytic anemia Liver Biopsy If performed will show increased hepatic copper Treatment Medical ammonium tetrathiomolybdate trientine zinc Surgical Consider liver transplantation as clinical condition deteriorates Prognosis, Prevention, and Complications At risk for liver disease hepatitis cirrhosis carcinoma (hepatocellular) Also at risk for Fanconi's disease of the proximal tubules

ISSN 0009-9236