Wilson’s disease is a rare disorder of copper metabolism which is inherited in an autosomal recessive pattern. This condition is characterized by excessive deposition of copper in the liver, brain, kidney and other tissues.
Wilson’s disease manifests as liver disease in children and adolescents, peaking at ages 10-13 years, and as neuropsychiatric illness in young adults aged 19-20 years, however the age of neuropsychiatric onset extends into the sixth decade of life.
Wilson’s disease is caused due to mutation in the ATP7B gene located at chromosome arm 13q.If single abnormal copy of this gene is present no symptoms are seen and these people are termed as carriers. If a child inherits the abnormal gene from both parents, they may develop Wilson’s disease.
The frequency of Wilson’s disease in most populations is about 1 in 30,000–40,000, and the frequency of carriers is 1%. Siblings of a diagnosed patient have a 1 in 4 risk of Wilson’s disease, whereas children of an affected patient have about a 1 in 200 risk.