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'''Aceruloplasminemia''' is an [[autosomal recessive]] disorder characterized by progressive [[neurodegeneration]] of the [[retina]] and [[basal ganglia]] and [[diabetes mellitus]]. |
'''Aceruloplasminemia''' is an [[autosomal recessive]] disorder characterized by progressive [[neurodegeneration]] of the [[retina]] and [[basal ganglia]] and [[diabetes mellitus]]. |
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Iron accumulates in the [[pancreas]], [[liver]] and [[brain]]. Accumulation in the eye may lead to [[retinal degeneration]]. The disease is caused by [[mutation]]s in the [[ceruloplasmin]] [[gene]].<ref name="Schapira">{{cite book|last=Schapira|first=Anthony|title=Mitochondrial Function and Dysfunction|publisher=Academic Press|date=2002|pages=177|isbn=0123668549|url=http://books.google.com/books?id=n2IzJJzDaWUC&pg=PA177&dq=Aceruloplasminemia&lr=&ei=q3pSSNrWNYTitgP59cVC&sig=0MBC8M5PHoNwRd1iAp8SJcmNUUU}}</ref> |
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Iron accumulates in the [[pancreas]], [[liver]] and [[brain]]. Accumulation in the eye may lead to [[retinal degeneration]]. The disease is caused by [[mutation]]s in the [[ceruloplasmin]] [[gene]]. |
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[[Image:autorecessive.jpg|thumb|right|Aceruloplasminemia has an [[autosomal recessive]] pattern of inheritance.]] |
[[Image:autorecessive.jpg|thumb|right|Aceruloplasminemia has an [[autosomal recessive]] pattern of inheritance.]] |
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== |
==Notes== |
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<references/> |
{{Reflist}}<references/> |
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{{unreferenced|date=January 2008}} |
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==See also== |
==See also== |
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* [[Human iron metabolism]] |
* [[Human iron metabolism]] |
Revision as of 14:03, 13 June 2008
Aceruloplasminemia | |
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Specialty | Endocrinology |
Aceruloplasminemia is an autosomal recessive disorder characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. Iron accumulates in the pancreas, liver and brain. Accumulation in the eye may lead to retinal degeneration. The disease is caused by mutations in the ceruloplasmin gene.[1]
Notes
- ^ Schapira, Anthony (2002). Mitochondrial Function and Dysfunction. Academic Press. p. 177. ISBN 0123668549.