Introduction
Wilson disease is a rare, hereditary disorder of copper metabolism with life-threatening consequences due to deficiency of the copper transport protein, copper-transporting ATPase 2 (ATP7B) (1,2,3). This autosomal recessive condition results from disease-associated variants in the copper-transporting ATP-ase beta gene (ATP7B) and has an estimated global prevalence of 1/30,000-1/50,000 (1,2,3).
Patients may present with liver disease, neurologic symptoms, and/or psychiatric disturbances resulting from the accumulation of copper primarily in the liver, brain and eyes (1,2,3). Clinical presentation varies, even within affected families; some individuals present within the first few years of life while others remain asymptomatic for decades (1,2,4).
