- toxic accumulation of copper in the liver and CNS (basal ganglia) due to failure of biliary copper excretion
- autosomal recessive
- defective gene ATP 7B (chromosome 13)
- prevalence 3:100,000
- normal copper absorption but defetive intrahepatic formation of caeruloplasmin
- features
- onset in childhood/adolescence
- hepatic dysfunction (cirrhosis)
- CNS involvement (chorea, oromandibular dystonia, tremor, seizure, cerebellar signs, psychosis)
- Kayser-Fleischer ring (copper deposition in Descement membrane)
- hemolysis
- Fanconi syndrome
- low serum uric acid
- diagnosis
- decrease in serum caeruloplasmin
- increase in hepatic copper content
- increase urinary excretion of copper (further increase following administration of penicillamine)
- treatment: copper chelators (penicillamine and trientine), zinc
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