Aceruloplasminemia

Common Name(s)

Aceruloplasminemia, Deficiency of ferroxidase

Aceruloplasminemia is a disorder of iron metabolism. This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's. As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's.  Eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aceruloplasminemia" for support, advocacy or research.

NBIA Disorders Association

In our drive to find a cure for Neurodegeneration with Brain Iron Accumulation (NBIA), we provide support to families, educate the public and accelerate research with collaborators from around the world.

Last Updated: 3 May 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aceruloplasminemia" for support, advocacy or research.

NBIA Disorders Association

In our drive to find a cure for Neurodegeneration with Brain Iron Accumulation (NBIA), we provide support to families, educate the public and accelerate research with collaborators from around the world.

http://www.NBIAdisorders.org

Last Updated: 3 May 2014

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Aceruloplasminemia" returned 15 free, full-text research articles on human participants. First 3 results:

Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation.
 

Author(s): Yasuhiro Suzuki, Kosuke Yoshida, Yoko Aburakawa, Kenji Kuroda, Takashi Kimura, Tatsuhiro Terada, Satoshi Kono, Hiroaki Miyajima, Osamu Yahara

Journal: Intern. Med.. 2013 ;52(13):1527-30.

 

A 59-year-old man presented with refractory anemia, choreoathetosis in the left upper extremity, an unsteady gait and cognitive dysfunction. The laboratory findings showed a marked decrease in ceruloplasmin. Magnetic resonance images revealed iron deposition in the brain and visceral ...

Last Updated: 1 Jul 2013

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Aceruloplasminemia: retinal histopathologic manifestations and iron-mediated melanosome degradation.
 

Author(s): Natalie Wolkow, Ying Song, Ting-Di Wu, Jiang Qian, Jean-Luc Guerquin-Kern, Joshua L Dunaief

Journal: Arch. Ophthalmol.. 2011 Nov;129(11):1466-74.

 

To examine the retinal histopathologic manifestation of aceruloplasminemia, an autosomal recessive disease caused by mutation of the ferroxidase ceruloplasmin, resulting in tissue iron overload.

Last Updated: 15 Nov 2011

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Criteria for early identification of aceruloplasminemia.
 

Author(s): Masaro Ogimoto, Keizo Anzai, Hiromasa Takenoshita, Kazuhiko Kogawa, Yuko Akehi, Ryoko Yoshida, Makiko Nakano, Kunihiro Yoshida, Junko Ono

Journal: Intern. Med.. 2011 ;50(13):1415-8.

 

A 52-year-old Japanese woman being treated for type 1 diabetes showed forgetfulness and microcytic anemia with a high serum ferritin concentration. Serum and brain radiological examinations revealed aceruloplasminemia, which was confirmed by genetic testing. Aceruloplasminemia is ...

Last Updated: 1 Jul 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Aceruloplasminemia" returned 1 free, full-text review articles on human participants. First 3 results:

Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis.
 

Author(s): Z L Harris, L W Klomp, J D Gitlin

Journal: Am. J. Clin. Nutr.. 1998 May;67(5 Suppl):972S-977S.

 

Aceruloplasminemia is an autosomal recessive disorder characterized by progressive neurodegeneration of the retina and basal ganglia associated with specific inherited mutations in the ceruloplasmin gene. Clinical and pathologic studies in patients with aceruloplasminemia revealed ...

Last Updated: 3 Jun 1998

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.