Wilson disease

[Hina Muqadas]

In Wilson disease, a rare hereditary disorder, the liver does not excrete excess copper into the bile as it normally does, resulting in accumulation of copper in the liver and liver damage.

Copper accumulates in the liver, brain, eyes, and other organs.
People with Wilson disease may have tremors, difficulty speaking and swallowing, problems with coordination, personality changes, or hepatitis.
Blood tests and eye examinations help confirm the diagnosis.
People must take drugs to remove copper and must avoid foods high in copper for the rest of their life.

Most of the copper in the body is located in the liver, bones, and muscle, but traces of copper occur in all tissues of the body. The liver excretes excess copper into the bile for elimination from the body. Because the liver does not excrete excess copper in people with Wilson disease, copper accumulates in the liver and damages it, causing cirrhosis. The damaged liver releases copper directly into the blood, and copper is carried to other organs, such as the brain, kidneys, and eyes, where it also accumulates.
(See also Overview of Minerals.)

[Vania]

Wilson disease results in accumulation of copper in the liver and other organs. Hepatic or neurologic symptoms develop. Diagnosis is based on a low serum ceruloplasmin level, high urinary excretion of copper, and sometimes liver biopsy results. Treatment consists of a low-copper diet and drugs such as penicillamine or trientine .

Wilson disease is a disorder of copper metabolism 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.

(See also Overview of Mineral Deficiency and Toxicity.)