written by: R. Elizabeth C. Kitchen•edited by: lrohner•updated: 12/31/2010
Learn about the genetics of aceruloplasminemia, a rare genetic disorder. Get to know the signs and symptoms, diagnosis and what types of treatment are available.
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Aceruloplasminemia is a genetic disorder characterized by iron gradually building up in the patient's brain as well as other organs. The build up of iron in the brain causes different neurological issues that tend to appear when the patient is an adult, and they become worse over time. Through studying the genetics of aceruloplasminemia, it is known that about one in 100,000 people are affected, but the exact incidence rate is not known.
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The genetics of aceruloplasminemia shows that a CP gene mutation is responsible for this disorder. This gene works to give instructions for making ceruloplasmin, a protein, which helps in the transport and processing of iron. When the production of this protein is not available, iron can accumulate due to problems with transport, such as neurological dysfunction, and other health issues. This disorder is inherited in an autosomal recessive pattern.
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Signs and Symptoms
Movement problems are common with this disorder, including involuntary movements such as jerking, grimacing, rhythmic shaking and eyelid twitching. Coordination problems, psychiatric problems, and cognitive functions progressively deteriorating are possible.
Anemia may also occur. This condition is characterized by not having enough red blood cells. Certain cells in the pancreas may be affected by the iron damage, resulting in diabetes mellitus. Eye and vision issues may also occur.
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Diagnosis often depends on the patient not having serum ceruloplasmin, and any combination of the following:
Low serum iron concentration
Increased hepatic iron concentration
Low serum copper concentration
High serum ferritin concentrations
Certain MRI findings will strongly support the diagnosis. These include abnormal low intensities showing iron build up in the brain and liver on T2 and T1 weighted images.
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There are not many treatments available for this disorder. Intense chelation therapy is the most common form of treatment for this disorder, though evidence in inconclusive. This therapy seems to slow down the progression of this disorder. Chelation therapy most often involves injecting ethylene diamine tetraacetic acid, a chemical that chelates, or binds to, heavy metals, like lead, cadmium, mercury, zinc, and iron. This therapy is not without risks, though, and may cause irregular heart beat, kidney damage, and possibly even death. The therapy is administered over a time period of about two to four hours and involves injecting this chemical into a vein. On average, a treatment cycle can include as many as 20 infusions or injections spread out over a period of 10 to 12 weeks. How long and how often a patient needs treatment will be determined by their doctor.
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Miyajima, H. MD. (2008). Aceruloplasminemia. Retrieved on November 22, 2010 from the US National Library of Medicine National Institutes of Health: http://www.ncbi.nlm.nih.gov/books/NBK1493/
Genetics Home Reference. (2008). Aceruloplasminemia. Retrieved on November 22, 2010 from Genetics Home Reference: http://ghr.nlm.nih.gov/condition/aceruloplasminemia