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Copyright 2010
NORD is very grateful to Alisdair McNeill, MD, Specialist Registrar in Medical Genetics, Regional Clinical Genetics Unit, Birmingham Womens Hospital, UK, for assistance in the preparation of this report.
Synonyms of Aceruloplasminemia
- familial apoceruloplasmin deficiency
- hereditary ceruloplasmin deficiency
Disorder Subdivisions
General Discussion
Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. Degeneration of the retina and diabetes may also occur. Symptoms usually become apparent during adulthood between 20 and 60 years of age. Aceruloplasminemia is caused by mutations of the ceruloplasmin (CP) gene. This mutation is inherited as an autosomal recessive trait.
Aceruloplasminemia is classified as a Neurodegenerative disorder with Brain Iron Accumulation (NBIA). NBIA are a group of rare inherited disorders characterized by iron accumulation in the brain. Aceruloplasminemia is also classified as an iron overload disorder.
Organizations related to Aceruloplasminemia
- Iron Disorders Institute
PO Box 675
Taylors SC 29687
Phone #: 864-292-1175
800 #: 888-565-4766
e-mail: info@irondisorders.org
Home page: http://www.irondisorders.org
- Iron Overload Diseases Association, Inc.
433 Westwind Drive
PO Box 15857
West Palm Beach Fl 33416-5857
Phone #: 561-586-8246
800 #: 866-768-8629
e-mail: iod@ironoverload.org
Home page: http://ironoverload.org
- NBIA Disorders Association
2082 Monaco Court
El Cajon CA 92019-4235
Phone #: 619-588-2315
800 #: --
e-mail: info@nbiadisorders.org
Home page: http://www.NBIAdisorders.org
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