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Wilson Disease Panel

Wilson Disease Panel

Wilson's disease is a rare and congenital alteration of copper metabolism transmitted in an autosomal recessive manner. It is caused by the pathological accumulation of copper in some body tissues, in particular the eyes, liver and brain. The age of onset of this condition is very variable, it can present between 6 and 45 years, although it is more frequent that it manifests itself in adolescence. Symptoms affecting the brain tissue are manifested by mood disturbances, movement difficulties, tremors, dysarthria and changes in muscle tone. In some cases, psychiatric manifestations may also occur. Liver symptoms, which are usually the first signs of the disease in children and young people, include jaundice, fatigue and abdominal swelling. Hepatic involvement shows a rather wide variability: some subjects, in fact, may not have disorders affecting this organ (but only, possibly, alterations in function tests), while others may undergo hepatic insufficiency.
Other manifestations of Wilson Disease include the appearance of a brownish ring around the iris (due to copper buildup), hormonal balance changes and osteoporosis.
The mutations underlying this pathology are borne by a single gene, ATP7B, which codes for a protein responsible for the elimination of excess copper through the bile. Although this element is essential for many biological functions (it is an important enzymatic cofactor), excessive quantities are toxic and must therefore be disposed of.

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