Normal consumption of copper: 1-2 mg/day. Extra is excreted in bile (90%) and urine.

Genetic defect in autosomal recessive ATP7B transport protein (chromosome 13) that results in the excess copper being kept in the body. - Presents in late childhood

Role of ATP7B:1. Binds Cu²⁺ to apoceruloplasmin → ceruloplasmin. 2. Packages copper into vesicles for excocytosis to bile → excretion.

Buildup of copper can react with superoxide and create free radicals. Free copper circulates and deposits in other tissues.- Liver → Acute hepatitis → Cirrhosis- Basal ganglia → Movement disorders- Cerebral cortex → Dementia- Descemet's membrane → Kayser-Fleischer ring

Diagnosis:- ↓ Ceruloplasmin, ↑ Cu (also in urine)- Hepatosplenomegaly- Renal damage- Hemolytic anemia- Biopsy: Rhodanin staining

Treatment: Penicillamine, liver transplant