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ICD-10: E83.0B
ORPHA: 905
Wilson disease is an autosomal recessive inheritance disorder caused by a change in the TP7B gene on chromosome 13 (13q14.3). The gene is a template for the production of a copper transport protein. When the protein production is disturbed, copper accumulates in several of the body’s organs, including liver cells, and/or is transported in the blood to the brain or other organs.
Symptoms vary in their nature and degree of severity. The first signs of the disease may occur from infancy into the 60s. Liver symptoms vary between mildly abnormal functions to chronic liver disease or acute liver inflammation and hepatitis. Copper that leaks from the liver can accumulate in the brain and produce neurological symptoms, such as body rigidity, shaking, difficulty in coordinating movements, involuntary movements and convulsions. Psychological symptoms range from personality disorders, problems of concentration and memory to anxiety, depression and psychosis. Treatment includes a low-copper diet, the use of copper-free cooking utensils and life-long medication. Current medications may have side effects such as nausea, vomiting and reduced or eliminated sense of taste. A liver transplant may be necessary in cases of acute liver failure or severe liver cirrhosis. Medication can prevent symptoms if the disease is detected before their onset.
Hepatolenticular degeneration.
Neurological effects often result in impaired facial expression, speech impairments and impaired chewing and swallowing.