Failure of biliary excretion of copper results in copper overload. Toxic accumulation of copper (Cu) in liver and basal ganglia (hepatolenticular degeneration). AR (automal recessive) on chromosome 13 (gene encoding Cu-transporting ATPase).
Presents - children / young adults - male=female (incidence) Features - liver: hepatitis, cirrhosis, fulminant failure - neuropyschiatric: extrapyramidal symptoms, psychosis - haematological: haemolytic anaemia
Cu studies - decreased serum Cu - decreased ceruloplasmin - 24 hr urinary Cu Liver biopsy - diagnostic / staging Genetic - molecular genetic testing
Drugs - penicillamine: chelates Cu Surgery - liver transplant Screening - 1st degree relatives Prognosis - pre-cirrhotic liver damage: reversible - neurological damage: permanent
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