Synonym: hepatolenticular degeneration Wilson's disease was
originally described by Dr Samuel Alexander Kinnier Wilson in
1912. It is a disorder of hepatic copper disposition caused by
mutations in the gene ATP7B, located on chromosome 13. Around
500 gene mutations are currently known. This gene encodes a
P-type adenosine triphosphatase (ATPase), known as Wilson's
ATPase, which functions within hepatocytes to move copper across
intracellular membranes. The copper-transporting action directly
supports production of the ferroxidase caeruloplasmin, in which
copper is incorporated, as well as excretion of copper into
bile. Consequently, in Wilson's disease, serum concentrations of
copper are low and hepatic retention of copper develops, leading
to liver injury. There is a variation in the symptoms in
patients with Wilson's disease. - Wilson's disease is inherited
as an autosomal recessive trait. It is a rare condition and can
often be difficult to diagnose. - The worldwide prevalence of
Wilson's disease is estima