However, if little more copper taken than needed (about 0.25 mg/day), it must be eliminated the excess.
In Wilson’s disease patient, a genetic abnormality of the copper excretion pathway in the liver prevents these patients from getting rid of excess copper.
The disease is caused by a defect in a autosomal recessive genetic important for copper transport. There is the failure to incorporate copper into caeruloplasmin and an accumulation of copper in the liver, kidney, brain and many other organs in the body.
Excess copper is toxic to cells by the generation of free radical, lipid peroxidation of membranes and DNA, inhibition of protein synthesis and alteration in the levels of cellular antioxidants. It is a major patho-physiological mechanism.
With the increasing copper accumulation, brain damage may ensue with characteristic neurological and psychiatric manifestations.
Symptoms of liver dysfunction may occur in children over 8 years old or in young puberty an adolescence.
Wilson disease
