Hepatolenticular degeneration
(Redirected from Wilson's Disease)
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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
- ↑ Anonymous (2024), Hepatolenticular degeneration (English). Medical Subject Headings. U.S. National Library of Medicine.
- ↑ 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.