ABSTRACT
This rare, autosomal recessive condition has a prevalence of 1 in 30 000. The manifestations of the disease are a result of increased copper accumulation, presumably due to reduced biliary excretion, which results in progressive tissue damage. This predominantly affects the liver, basal ganglia of the brain (hence the old term ‘hepato-lenticular degeneration), and leads to the formation of characteristic corneal pigmentation (Kayser-Fleischer rings). The Wilson’s disease gene is located on the long arm of chromosome 13; genetic investigation of affected families is possible. The exact metabolic defect causing the disease is unknown.
