nutritional disorders
Wilson Disease
Introduction
Wilson disease results in accumulation ofcopperin the liver and other organs. Hepatic or neurologic symptoms develop. Diagnosis is based on a low serum ceruloplasmin level, high urinary excretion ofcopper, and sometimes liver biopsy results. Treatment consists of a low-copperdiet and drugs such aspenicillamineortrientine. (See also Overview of Minerals .) Wilson disease is a disorder ofcoppermetabolism that affects men and women; about 1 person in 30,000 has the disorder. Affected people are homozygous for the mutant recessive gene, located on chromosome 13. Heterozygous carriers, who constitute about 1.1% of the population, are asymptomatic. 