Snapshot A 26-year-old woman presents with progressive writhing and jerking movements of the extremities, excess drooling, and multiple joint pains. Computed tomography scan was unremarkable, however, a magnetic resonance image showed hypodense basal ganglia bilaterally. Ocular exam was notable for a brown-yellow pigment that appears to be around the iris. Labs were remarkable for elevated aspartate transaminase (AST) and alanine transaminase (ALT). Introduction Clinical definition abnormal copper accumulation in the body Genetics autosomal recessive ATP7B gene (copper transport protein, chromosome 13) Epidemiology Usually < 30 years of age Rare ETIOLOGY Pathogenesis impaired biliary excretion of copper excessive copper deposition throughout the body most symptoms related to accumulation in liver and brain Presentation Symptoms fatigue vomiting jaundice tremor personality change anxiety hallucination infertility joint pain Physical exam hepatomegaly and splenomegaly jaundice asterixis extrapyramidal tremors chorea loss of coordination dementia pathognomonic Kayser-Fleischer rings Studies Diagnostic testing diagnostic approach start with noninvasive tests diagnosis based on collective test results liver biopsy not always indicated studies copper studies ↓ serum ceruloplasmin and ↓ serum copper due to liver disease and decreased ceruloplasmin synthesis 95% of copper carried by ceruloplasmin ocular slit lamp exam evaluate presence of Kayser-Fleischer rings 24-hour urinary copper excretion ↑ excretion due to ↑ free copper liver biopsy ↑ copper concentration molecular testing genetic analysis of ATP7B liver function tests evaluate presence of hepatitis AST:ALT ratio usually > 2 Differential Autoimmune hepatitis distinguishing factor autoantibody present Huntington disease distinguishing factors normal copper metabolism normal liver function Treatment Lifestyle management dietary copper restriction First-line d-penicillamine chelating agent to remove excess copper coadminister with pyridoxine oral zinc increases fecal excretion used as maintenance therapy Second-line liver transplant if medical management fails Complications Liver cirrhosis and failure Death