Snap Shot A 26-year-old woman presents with progressive writhing and jerking movements of the extremities, excess drooling, and multiple joint pains. CT scan was unremarkable, however a MRI showed hypodense basal ganglia bilaterally. Labs were remarkable for elevated LFTs. Introduction A rare autosomal recessive disorder defect involves a copper transporting protein and is linked to chromosome 13 Characterized by impaired biliary excretion of copper leads to excessive copper deposition in the liver and brain. Usually presents in patients< 30 years old Presentation Aggressive chronic hepatitis, which often progresses to cirrhosis liver symptoms include asterix jaundice mental status changes Basal ganglia copper deposition leads to extrapyramidal tremors loss of coordination drooling dementia Deposition in the joints causes a degenerative arthritis spine and large joints are most commonly involved Physical exam pathognomonic Kayser-Fleischer rings in the cornea hepatomegaly Parkinsonian tremor Evaluation Decreased serum ceruloplasmin due to liver disease and decreased ceruloplasmin synthesis leads to a decrease in total copper there is an elevation in free copper which can be seen by elevated urinary copper Treatment First step is dietary copper restriction. Penicillamine (a copper chelator) coadministered with pyridoxime oral zinc (increases fecal excretion) can be used for maintenance therapy Liver transplant if drug fails