Inborn error of copper metabolism that usually presents at a younger age. Copper accumulates in:

  • Liver (\rightarrow) Cirrhosis
  • Eyes (\rightarrow) Kayser-Fleischer rings
  • Brain (\rightarrow) ataxia etc

Check serum copper & caeruloplasmin, uninary copper, slit lamp and liver biopsy

Treat with copper chelation and excretion enhancement (penicillamine)