Snapshot A 33-year-old female is referred to a neurologist by her primary care physician for unsteady gait, forgetfullness, and recent episodes of Terret-like spells where she will fling one arm out and above her head seemingly unprovoked. On physical exam, the neurologist notices that her irises appear multicolored with concentric rings around the perpiphery. He is concerned for a metabolic disease and orders several laboratory and radiologic studies. In the interim he has advised her to avoid eating chocolate and shellfish. Introduction Free copper accumulation in many tissues (liver, brain, cornea, joints) also known as hepatolenticular degeneration mutation in ATP7B results in login to view 4 more bullets free copper generates free radicals that damage tissues see Metabolism of copper topic AR inheritance Presentation Symptoms Parkinson-like symptoms login to view 1 more bullet hemiballismus login to view 1 more bullet dementia login to view 1 more bullet Physical exam cirrhosis corneal deposits on slit lamp examination login to view 2 more bullets Evaluation Labs ↓ total serum copper login to view 1 more bullet ↑ serum non-ceruloplasmin bound copper ↑ urine/serum free copper hemolytic anemia Liver Biopsy If performed will show increased hepatic copper Treatment Medical ammonium tetrathiomolybdate login to view 1 more bullet penicillamine login to view 1 more bullet trientine login to view 1 more bullet zinc login to view 1 more bullet 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