• ATP7B gene
• Lack of copper excretion into bile.
• excess copper leads to hepatocyte damage and steatosis
• ranges from Fatty – acute hepatitis – chronic – cirrhosis.
• Brain, kidney damage.
• Cornea – Kayser-Fleischer rings

Demographics

• any age, mainly 3-35y

Pathology

• genetic mutation → Defective biliary excretion of copper and defective incorporation of copper into caeruloplasmin (copper carrier)→ accumulation in liver and brain

Risk Factors

• FHx

Presentation

• acute liver failure or asymptomatic liver disease -> cirrhosis,
• Kayser-Fleischer rings
• neuropsychiatric disturbances (tremor, ataxia, dystonia)