Hepatolenticular degeneration

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In medicine, hepatolenticular degeneration or Wilson's Disease is "a rare autosomal recessive disease characterized by the deposition of copper in the brain; liver; cornea; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as liver cirrhosis; tremor; ataxia and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years."[1][2]

References

  1. Anonymous (2021), Hepatolenticular degeneration (English). Medical Subject Headings. U.S. National Library of Medicine.
  2. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML (2007). "Wilson's disease.". Lancet 369 (9559): 397-408. DOI:10.1016/S0140-6736(07)60196-2. PMID 17276780. Research Blogging.