Reviewed April 2008
What is aceruloplasminemia?
Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time.
People with aceruloplasminemia develop a variety of movement problems. They may experience involuntary movements such as rhythmic shaking (tremors), jerking movements (chorea), eyelid twitching (blepharospasm), and grimacing. They may also have difficulties with coordination (ataxia). Some affected individuals develop psychiatric problems and progressive deterioration of cognitive functions (dementia) in their forties or fifties.
In addition to neurological problems, iron accumulation in the tissues and organs results in a corresponding iron deficiency in the blood, leading to a shortage of red blood cells (anemia). Affected individuals may also have diabetes mellitus caused by iron damage to certain cells in the pancreas. These cells make insulin, which is a hormone that helps control blood sugar levels. Anemia and diabetes usually occur by the time an affected person is in his or her twenties. Affected individuals also have changes in the light-sensitive tissue at the back of the eye (retina). The changes result in small opaque spots and areas of tissue degeneration (atrophy) around the edges of the retina. These abnormalities usually do not affect vision but can be observed during an eye examination.
How common is aceruloplasminemia?
Aceruloplasminemia has been seen worldwide, but its overall prevalence is unknown. Studies in Japan have estimated that approximately 1 in 100,000 individuals in this population are affected.
What genes are related to aceruloplasminemia?
Mutations in the CP gene cause aceruloplasminemia. The CP gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body and prepares it for incorporation into a molecule called transferrin, which transports it to red blood cells.
CP gene mutations result in the production of ceruloplasmin protein that is unstable or nonfunctional, or prevent the protein from being secreted by the cells in which it is made. When ceruloplasmin is unavailable, the resulting iron transport problems lead to iron accumulation, neurological dysfunction, and the other health problems seen in aceruloplasminemia.
How do people inherit aceruloplasminemia?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where can I find information about treatment for aceruloplasminemia?
You may find information on treatment or management of aceruloplasminemia or some of its symptoms in the links below, particularly the links for
Gene Reviews, Educational resources, and Patient support.
Where can I find additional information about aceruloplasminemia?
You may find the following resources about aceruloplasminemia helpful. These materials are written for the general public.
- MedlinePlus - Health information
Health Topic: Blood and Blood Disorders (http://www.nlm.nih.gov/medlineplus/bloodandblooddisorders.html)
- Additional NIH Resources - National Institutes of Health
National Institute of Neurological Disorders and Stroke: Neurodegeneration with Brain Iron Accumulation Information Page (http://www.ninds.nih.gov/disorders/nbia/nbia.htm)
- Educational resources - Information pages
Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=48818)
- Patient support - For patients and families
- Iron Disorders Institute (http://www.irondisorders.org/)
- Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders Association (http://www.nbiadisorders.org/)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for aceruloplasminemia?
- familial apoceruloplasmin deficiency
- hereditary ceruloplasmin deficiency
- hypoceruloplasminemia
- systemic hemosiderosis due to aceruloplasminemia
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What if I still have specific questions about aceruloplasminemia?
- See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
- Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
- Submit your question to Ask the Geneticist (http://www.askthegen.org/).
What glossary definitions help with understanding aceruloplasminemia?
anemia ;
ataxia ;
atrophy ;
autosomal ;
autosomal recessive ;
cell ;
ceruloplasmin ;
chorea ;
deficiency ;
dementia ;
diabetes ;
diabetes mellitus ;
familial ;
gene ;
hormone ;
insulin ;
involuntary ;
iron ;
molecule ;
mutation ;
neurological ;
opaque ;
pancreas ;
population ;
prevalence ;
protein ;
recessive ;
red blood cell ;
retina ;
sign ;
symptom ;
tissue ;
transferrin ;
tremor
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary (http://ghr.nlm.nih.gov/glossary).
References
- Berg D, Youdim MB. Role of iron in neurodegenerative disorders. Top Magn Reson Imaging. 2006 Feb;17(1):5-17. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=17179893)
- Harris ZL. Aceruloplasminemia. J Neurol Sci. 2003 Mar 15;207(1-2):108-9. Review. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12614942)
- Hellman NE, Gitlin JD. Ceruloplasmin metabolism and function. Annu Rev Nutr. 2002;22:439-58. Epub 2002 Apr 4. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12055353)
- Kono S, Miyajima H. Molecular and pathological basis of aceruloplasminemia. Biol Res. 2006;39(1):15-23. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16629161)
- Kono S, Suzuki H, Oda T, Miyajima H, Takahashi Y, Shirakawa K, Ishikawa K, Kitagawa M. Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia. Neuromolecular Med. 2006;8(3):361-74. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16775387)
- Kono S, Suzuki H, Oda T, Shirakawa K, Takahashi Y, Kitagawa M, Miyajima H. Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia. J Hepatol. 2007 Dec;47(6):844-50. Epub 2007 Jun 18. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=17637479)
- Madsen E, Gitlin JD. Copper and iron disorders of the brain. Annu Rev Neurosci. 2007;30:317-37. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=17367269)
- Miyajima H. Aceruloplasminemia, an iron metabolic disorder. Neuropathology. 2003 Dec;23(4):345-50. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14719552)
- Nittis T, Gitlin JD. The copper-iron connection: hereditary aceruloplasminemia. Semin Hematol. 2002 Oct;39(4):282-9. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12382203)
- Ponka P. Hereditary causes of disturbed iron homeostasis in the central nervous system. Ann N Y Acad Sci. 2004 Mar;1012:267-81. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15105272)
- Vassiliev V, Harris ZL, Zatta P. Ceruloplasmin in neurodegenerative diseases. Brain Res Brain Res Rev. 2005 Nov;49(3):633-40. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16269323)
- Xu X, Pin S, Gathinji M, Fuchs R, Harris ZL. Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. Ann N Y Acad Sci. 2004 Mar;1012:299-305. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15105274)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
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