This is a disorder of copper metabolism. It is associated with severe liver disease, often beginning with signs of recurrent jaundice, sometimes a hepatitis-like illness, and often culminating in liver failure. Hepatobiliary malignancies are a significant risk, occurring in more than 1 percent of patients. Neurologic toxicity leads to various movement disorders such as tremors, poor coordination, dystonia, and choreoathetosis. Many patients have mental symptoms such as depression, neurotic behavior, and personality disturbances. Some have a mask-like facies and pseudobulbar symptoms. Symptoms can appear anytime from 3 years of age to over 50. Other organs such as kidney, pancreas, heart and even joints may also be involved.
Patients often have a low serum ceruloplasmin, low copper levels, increased urinary excretion of copper, and increased concentration of copper in the liver.