Wilson's disease.
Wilson's disease, an autosomal recessive disorder of copper metabolism, most often becomes apparent in adolescence and may present with a multitude of signs and symptoms. Early diagnosis and treatment can prevent irreversible damage to the liver and the central nervous system. The diagnosis is confirmed by hepatic biopsy and quantitation of copper in the tissues. Treatment is chelation of excess copper. If untreated, Wilson's disease is fatal.
Woods
S E
SE
Bethesda Hospital, Cincinnati, Ohio.
Colón
V F
VF
D000293:Adolescent; D000328:Adult; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000503:physiopathology; D006801:Humans; D008297:Male; D010396:Penicillamine / Q000627:therapeutic use; D011247:Pregnancy
D010396:Penicillamine