WILSON DISEASE

Autosomal-recessive characterized by deficiency in ATP7B enzyme leading to:
 - decrease in copper transport into bile impairment of copper incorporation into ceruloplasmin.

 - Inhibition of ceruloplasmin secretion into the blood.
 - Accumulation of toxic levels of copper in

  * Liver, (steatohepatitis, necrosis, cirrhosis)
  * Brain, (damage to basal ganglia)
  * Eye, (Kayser-Fleischer ring)

Clinical Features

 - Rare before the age of 6 years
 - Acute or chronic liver disease
 - Neuropsychiatric manifestations

Diagnosis

 - Biochemical changes
  * decrease in serum ceruloplasmin
  * increase in hepatic copper content (sensitive & specific test)
  * increase urinary excretion of copper (most specific screening test)
 - Clinical (Kayser-Fleischer ring)