Definition: A disorder of copper metabolism, characterized by liver cirrhosis, basal ganglia degeneration, neurologic manifestations, and deposition of green or golden brown pigmentation in the periphery of the cornea. The plasma levels of copper and ceruloplasmin are decreased; urinary excretion of copper is increased; and the amounts of copper in the liver, brain, kidneys, and lenticular nucleus are unusually high whereas cytochrome oxidase is reduced. Autosomal recessive inheritance caused by mutation in the copper-transporting ATPase gene (ATP7B) on chromosome 13q.
Synonym(s): exfoliative dermatitis
Synonym(s): hepatolenticular degeneration
See Also: Kayser-Fleischer ring
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