or hepatolenticular degeneration
Recessive hereditary defect (see recessiveness ) that impairs one's ability to metabolize copper.
In affected persons, copper accumulates in the basal ganglia (see ganglion ) of the brain (involved in control of movement), causing progressive degeneration; forms a brownish ring at the margin of the cornea of the eye; and is deposited in the liver, gradually leading to cirrhosis . Other symptoms include tremor, lack of coordination, and personality changes. The disease usually appears in the person's teen years or twenties. Early diagnosis and treatment with a high-protein, low-copper diet and a substance to chelate copper can reverse the effects and prevent permanent brain and liver damage.