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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.
Read more about the CP gene.
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 diagnosis or management of aceruloplasminemia?
These resources address the diagnosis or management of aceruloplasminemia and may include treatment providers.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
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.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for aceruloplasminemia?
What if I still have specific questions about aceruloplasminemia?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding aceruloplasminemia?
anemia ; ataxia ; atrophy ; autosomal ; autosomal recessive ; cell ; chorea ; deficiency ; dementia ; diabetes ; diabetes mellitus ; familial ; gene ; hormone ; insulin ; involuntary ; iron ; molecule ; neurological ; opaque ; pancreas ; population ; prevalence ; protein ; recessive ; retina ; tissue ; transferrin
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 links)
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? in the Handbook.