Wilson's disease (WD) is an inborn error of copper metabolism caused by a 
mutation to the copper-transporting gene ATP7B. The disease has an autosomal 
recessive mode of inheritance, and is characterized by excessive copper 
deposition, predominantly in the liver and brain. Diagnosis of the condition 
depends primarily on clinical features, biochemical parameters and the presence 
of the Kayser-Fleischer ring, and a new diagnostic scoring system has recently 
been proposed. Mutations in ATP7B can occur anywhere along the entire 21 exons, 
which makes the identification of gene defects particularly challenging. 
Identification of carriers and presymptomatic family members of affected 
individuals is achieved by polymerase-chain-reaction-based marker analysis. The 
traditional treatment for WD is based on copper chelation with agents such as 
D-penicillamine, but use of this drug has been questioned because of reported 
side effects. The use of agents such as trientine and ammonium 
tetrathiomolybdate has been advocated, although results of long-term trials are 
awaited. In selected cases, orthotropic hepatic transplantation can reverse the 
basic metabolic abnormality in WD and improve both hepatic and neurological 
symptoms. Studies of the underlying defects in ATP7B and its suspected modifiers 
ATOX1 and COMMD1 are expected to unravel the disease's genotype-phenotype 
correlation, and should lead to the design of improved drugs for ameliorating 
the suffering of patients.