Hepatolenticular degeneration: Difference between revisions
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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."<ref>{{MeSH}}</ref><ref name="pmid17276780">{{cite journal| author=Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML| title=Wilson's disease. | journal=Lancet | year= 2007 | volume= 369 | issue= 9559 | pages= 397-408 | pmid=17276780 | 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."<ref>{{MeSH}}</ref><ref name="pmid17276780">{{cite journal| author=Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML| title=Wilson's disease. | journal=Lancet | year= 2007 | volume= 369 | issue= 9559 | pages= 397-408 | pmid=17276780 | ||
| url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=clinical.uthscsa.edu/cite&email=badgett@uthscdsa.edu&retmode=ref&cmd=prlinks&id=17276780 | doi=10.1016/S0140-6736(07)60196-2 }} <!--Formatted by http://sumsearch.uthscsa.edu/cite/--></ref> | | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=clinical.uthscsa.edu/cite&email=badgett@uthscdsa.edu&retmode=ref&cmd=prlinks&id=17276780 | doi=10.1016/S0140-6736(07)60196-2 }} <!--Formatted by http://sumsearch.uthscsa.edu/cite/--></ref> | ||
Latest revision as of 16:12, 26 February 2010
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.