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Aceruloplasminemia is a rare autosomal recessive disorder in which iron gradually accumulates in the retina, basal ganglia, and other organs.〔Harris ZL, Klomp LW, Gitlin JD. (Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis ). ''Am J Clin Nutr''. 1998;67(5 Suppl):972S-977S.〕 Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time. Aceruloplasminemia has been seen worldwide, but its overall prevalence is unknown. Studies in Japan have estimated that approximately 1 in 2 million adults in this population are affected. Aceruloplasminemia belongs to the group of genetic disorders called neurodegeneration with brain iron accumulation (NBIA). == Symptoms == Patients with aceruloplasminemia develop a variety of movement problems. They may experience dystonia of the head and neck, resulting in repetitive movements and contortions. Other involuntary movements may also occur, such as tremors, chorea, blepharospasms, and grimacing. Affected individuals may also experience ataxia, the lack of coordination of muscle movements. Some develop psychiatric problems and midlife dementia.〔 The type of neurological disruption corresponds to associated regions of iron deposition in the brain and liver. In addition to neurological problems, affected individuals may have diabetes mellitus caused by iron damage to cells in the pancreas that make insulin. This impairs blood sugar regulation and leads to the signs and symptoms of diabetes.〔 Iron accumulation in the tissues and organs results in a corresponding iron deficiency in the blood, leading to anemia. Anemia and diabetes usually occur by the time an affected person is in his or her twenties.〔 Affected individuals also experience retinal degeneration caused by excess iron. The changes result in small opaque spots and areas of atrophy around the edges of the retina. These abnormalities usually do not affect vision but can be observed during an eye examination.〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Aceruloplasminemia」の詳細全文を読む スポンサード リンク
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