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Aceruloplasminemia
Other Names for this Disease
- Ceruloplasmin deficiency
- Familial apoceruloplasmin deficiency
- Hereditary ceruloplasmin deficiency
- Hypoceruloplasminemia
- Systemic hemosiderosis due to aceruloplasminemia
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Overview
Aceruloplasminemia is a disorder of iron metabolism.[1] 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.[2] As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid twitching, and grimacing.[2] Some experience psychiatric problems and dementia in their 40's and 50's.[2] Eye examination may reveal changes in the retina, but these changes typically do not affect vision.[2] Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion.[2]
References
- Miyajima H. Aceruloplasminemia. GeneReview. http://www.ncbi.nlm.nih.gov/books/NBK1493. Accessed August 3, 2011.
- Aceruloplasminemia. Genetic Home Reference. http://ghr.nlm.nih.gov/condition=aceruloplasminemia. Accessed August 3, 2011.
Your Questions Answered
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General Information
- Genetics Home Reference (GHR) contains information on Aceruloplasminemia. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Aceruloplasminemia. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Aceruloplasminemia. Click on the link to go to OMIM and review these resources.