A autosomal recessive genetic disorder that causes excessive copper accumulation in the liver or brain. Patients may develop a range of psychiatric symptoms, including homicidal or suicidal behavior, depression, and aggression.
A hereditary disease where copper deposits accumulate in the liver and the brain, causing cirthosis.
Abnormal accumulation of copper in tissues due to an impaired incorporation of copper into ceruloplasmin and decreased biliary excretion of copper. The disease is a rare genetic disease where there is a mutation in the P-type ATPase cation transporter.
Wilson disease (WD), or hepatolenticular degeneration, is a rare autosomal recessive metabolic disease linked to Chromosome 13. It is caused by two mutant alleles of a putative copper transporter, STP7B. As a result of increased copper accumulation in the liver, brain, and corneal tissue, individuals with Wilson disease often suffer from cirrhosis of the liver, bilateral softening and degeneration of the basal ganglia, and brown pigmented rings in the periphery of the cornea, referred to as Kayser-Fleischer rings (International Hepatology Informatics Group, 1994).
A rare genetic disorder in which copper accumulates to toxic levels—first in the liver, causing hepatitis and then cirrhosis of the liver, and then in other parts of the body: in the blood, causing hemolytic anemia, and in the brain, causing destruction of tissue and gradually intellectual impairment, tremors, muscle rigidity, dysarthria, and dementia. Symptoms of Wilson’s disease usually appear in adolescence, sometimes earlier; serious damage can be avoided if the disease is recognized quickly and the patient started on a lifelong course of penicillamine. In a related congenital disorder, Menkes syndrome, the intestines are unable to absorb copper from the digestive system; unusually kinky hair is the main early symptom. Brain degeneration, retarded growth, and early death can result unless the disorder is diagnosed early and copper administered intravenously.
Rare, inherited disorder of copper metabolism in which copper accumulates in the liver and then in the erythrocytes (red blood cells) and brain, leading to anemia, tremors, dementia, and other symptoms. Treatment includes a diet low in copper and use of drugs to bind copper. Also called hepatolenticular degeneration.
A genetic disorder that causes copper to accumulate in several organs of the body, particularly in the brain, eyes, kidneys, and liver. Wilson disease is essentially a disease of copper poisoning. Normally, the body is able to eliminate excess copper, which is present in most foods. But people with Wilson disease cannot eliminate copper, and it begins to accumulate in the body immediately after birth.
Wilson’s disease, or hepatolenticular degeneration, is a familial disease in which there is an increased accumulation of copper in the liver, brain, and other tissues including the kidneys. Its main manifestation is the development of tremor and rigidity, with difficulty in speech. In many cases there is improvement following treatment with dimercaprol, penicillamine, or trientine dihydrochloride; these substances cause an increased excretion of copper.
A hereditary syndrome transmitted as an autosomal recessive trait in which a decrease of ceruloplasmin permits accumulation of copper in various organs (brain, liver, kidney, and cornea) associated with increased intestinal absorption of copper. A pigmented ring (Kayser-Fleischer ring) at the outer margin of the cornea is pathognomonic. This syndrome is characterized by degenerative changes in the brain, cirrhosis of the liver, hemolysis, splenomegaly, tremor, muscular rigidity, involuntary movements, spastic contractures, psychic disturbances, dysphagia, and progressive weakness and emaciation.
A hereditary condition characterized by the abnormal buildup of copper within the organism, resulting in the onset of liver ailment alongside an array of neurological and psychiatric manifestations.
Wilson’s disease is an uncommon genetic disorder characterized by the buildup of copper in the liver, leading to conditions like hepatitis and cirrhosis. Over time, copper gradually releases into other parts of the body, causing harm to the brain and resulting in mild intellectual impairment, as well as severe symptoms such as rigidity, tremors, and dementia. Typically, the signs of Wilson’s disease manifest during adolescence, although they can emerge earlier or later in life.
Continuous penicillamine treatment is essential for the duration of the condition, and if initiated promptly, it can lead to noticeable improvement. If the disease is identified before any symptoms surface, this medication has the potential to prevent their onset.