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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How do you compare to others with this condition?

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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 18 free, full-text research articles on human participants. First 3 results:

The Resection of Thyroid Cancer Was Associated with the Resolution of Hyporesponsiveness to an Erythropoiesis-stimulating Agent in a Hemodialysis Patient with Aceruloplasminemia.
 

Author(s): Soichiro Nagata, Naoki Ikegaya, Shuhei Ogino, Shinichi Uchida, Mikiko Itaya, Aoi Momita, Shingo Shinozaki, Masaharu Ohura, Ken Kuriki, Satoshi Kono, Hiroaki Miyajima, Akira Hishida

Journal: Intern. Med.. 2017 ;56(7):805-810.

 

We herein report the case of a hemodialysis patient whose response to an erythropoiesis-stimulating agent (ESA) improved following the resection of thyroid cancer. Her hemoglobin level remained below 7 g/dL, despite the use of ESA. During the search for the causes of her hyporesponsiveness ...

Last Updated: 31 Dec 1969

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Aceruloplasminemia With Psychomotor Excitement and Neurological Sign Was Improved by Minocycline (Case Report).
 

Author(s): Maiko Hayashida, Sadayuki Hashioka, Hiroyuki Miki, Michiharu Nagahama, Rei Wake, Tsuyoshi Miyaoka, Jun Horiguchi

Journal: Medicine (Baltimore). 2016 May;95(19):e3594.

 

Aceruloplasminemia is an autosomal recessive disorder of iron metabolism caused by mutations in the ceruloplasmin gene. Its prevalence is 1 in 2,000,000 people in Japan. This is a disorder of neurodegeneration with iron accumulation in the brain revealed by MRI. The iron overload ...

Last Updated: 31 Dec 1969

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Aceruloplasminemia: An entity to consider in patients with anemia.
 

Author(s): MarĂ­a Lozano-Varela, Elisa Carrera-Alonso, Gema Plaza-Palacios

Journal: Rev Esp Enferm Dig. 2014 May;106(5):360-1.

 

Last Updated: 31 Dec 1969

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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 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.