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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

2 Dosing may range from 600mg to 1200mg weekly, but must be tailored to individual needs and under supervision

If the reconstituted solution shows any discoloration, particles or if anything similar is observed, discard it immediately

Specifically, methylation controls gene expression and gene silencing