Wilson disease (WD) is an autosomal recessive inherited disorder caused by dysfunction of
the copper transporter ATP7B, which is expressed mainly in hepatocytes and is critical for
hepatic copper homeostasis. 1-3 Defective ATP7B function causes impaired biliary copper
excretion and pathological accumulation of copper in the liver and central nervous system.
WD has a prevalence of approximately 1 in 30,000 live births. Most patients present with
symptoms in their first or second decades of life, with 5% developing acute liver failure (Fig …