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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 inadequate copper excretion by liver into bile failure of copper to enter circulation bound to ceruloplasmin free copper generates free radicals that damage tissues see Metabolism of copper topic AR inheritance Presentation Symptoms Parkinson-like symptoms secondary to copper desposits in putamen hemiballismus secondary to copper desposits in subthalamic nucleus dementia secondary to copper desposits in cerebral cortex Physical exam cirrhosis corneal deposits on slit lamp examination Evaluation ↓ total serum copper due to ↓ ceruloplasmin ↑ serum non-ceruloplasmin bound copper ↑ urine/serum free copper hemolytic anemia Liver Biopsy If performed will show increased hepatic copper Treatment Medical ammonium tetrathiomolybdate facilitates urinary excretion of copper copper chelating agent trientine copper chelating agent zinc competes with copper for absorbtion in the gut via the same transporter 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
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Select a Size:60 Capsules
Cell viability was assessed using the Cell Counting Kit-8 (CCK8) assay, measuring metabolic activity as an indicator of cell health