Wilson's disease (WD) is inherited in an autosomal recessive manner and is caused by pathogenic variants of the gene, which are responsible for impaired copper transport in the cell, inhibition of copper binding to apoceruloplasmin, and biliary excretion. This leads to the accumulation of copper in the tissues. Copper accumulation in the CNS leads to the neurological and psychiatric symptoms of WD.
View Article and Find Full Text PDF(1) Introduction: Wilson's disease (WND) is an autosomal recessive disorder of copper metabolism. The WND gene is , located on chromosome 13. WND is characterized by high clinical variability, which causes diagnostic difficulties.
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