What is wilsons syndrome

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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Wilson disease. From Genetics Home Reference. Description Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. Frequency Wilson disease is a rare disorder that affects approximately 1 in 30, individuals.

Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. Research Studies from ClinicalTrials. References Aggarwal A, Bhatt M. Most people with Wilson's disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well.

Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and excess is excreted through a substance produced in your liver bile. But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. When diagnosed early, Wilson's disease is treatable, and many people with the disorder live normal lives.

Wilson's disease care at Mayo Clinic. Wilson's disease is present at birth, but signs and symptoms don't appear until the copper builds up in the brain, liver or other organ. Signs and symptoms vary depending on the parts of your body affected by the disease. They can include:. Make an appointment with your doctor if you have signs and symptoms that worry you, especially if a family member has Wilson's disease.

To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one mutated gene recessive gene and one normal gene dominant gene for the condition.

Unproven therapies for so-called Wilson's syndrome may leave you feeling sicker, while a treatable condition — such as fibromyalgia or depression — goes undiagnosed. Todd B. Nippoldt, M.

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Wilson's syndrome: An accepted medical diagnosis? Answer Section No, Wilson's syndrome, also referred to as Wilson's temperature syndrome, isn't an accepted diagnosis.