Wilson's disease is an autosomal recessive disorder with an occurrence of approximately 1:30,000 (Sandahl et al., 2020), and over 500 mutations in the ATP7B gene have been identified in Wilson's disease patients (Kenney & Cox, 2007). S.A. Wilson's 1912 description of “progressive lenticular degeneration” was the seminal report to describe what is currently known as “Wilson's disease” (Compston, 2009). Wilson's work described an array of neurological symptoms, including involuntary movements, tremors, muscle rigidity, dystonia, and spastic movement of the limbs and face (Compston, 2009). Post-mortem analysis identified significant liver cirrhosis, which was surprising considering the age of patients (10–26 years old) and lack of hepatic symptoms (Compston, 2009).

Wilson's disease is often difficult to diagnose due to the heterogenous presentation of symptoms. It is currently understood that Wilson's disease can present with hepatic, neurological, or mixed (both hepatic and neurological) symptoms. The presentation of hepatic symptoms includes liver steatosis, cholestasis, jaundice, hepatitis, and liver failure (Lutsenko et al., 2007; Weiss & Schilsky, 1993). Neurological symptoms may also include sleep disorders, psychiatric disturbances, depression, and bipolar disorder (Weiss & Schilsky, 1993). In addition to genetic testing for ATP7B variants, diagnostic criteria include hepatic copper of >250 μg/g dry liver weight, low serum ceruloplasmin, increased urinary copper, and/or the presence of Kayser-Fleisher rings (Nuttall, Palaty, & Lockitch, 2003).