Aceruloplasminemia
Aceruloplasminemia is a rare autosomal recessive disorder[1] characterized by the liver's inability to properly synthesize the protein ceruloplasmin. This protein plays a critical role in transporting copper in the blood. A deficiency in ceruloplasmin leads to abnormal iron metabolism and a subsequent copper deficiency in the brain, causing neurological disorders that generally manifest in adulthood and progressively worsen over time.[2]
This condition has been observed globally, although its exact prevalence is unknown. Research in Japan suggests a prevalence of approximately 1 in 2 million adults.[3] Aceruloplasminemia is classified within a group of rare disorders known as neurodegeneration with brain iron accumulation (NBIA).
Signs and symptoms[edit | edit source]
Affected individuals commonly experience a range of movement disorders such as dystonia, tremors, chorea, blepharospasm, and grimacing. These symptoms result from iron accumulation in specific regions of the brain. Ataxia—a lack of coordination in muscle movements—along with midlife dementia and psychiatric disorders, may also occur.[3][4]
Additional symptoms include diabetes mellitus, resulting from iron-induced damage to pancreatic beta cells, leading to impaired blood sugar regulation.[3] Affected individuals may also develop anemia due to iron deficiency in the blood and retinal degeneration, characterized by small opaque spots and areas of atrophy in the retina. Although these changes are visible during an eye exam, they rarely affect vision.[3]
Cause[edit | edit source]
The disorder is caused by mutations in the CP gene, which encodes the protein ceruloplasmin. Ceruloplasmin is essential for transporting and processing iron in the body. It facilitates the incorporation of iron into transferrin, which delivers it to red blood cells for oxygen transport. Mutations in the CP gene disrupt this process, leading to the accumulation of iron in tissues and subsequent cellular damage.[2][5]
Diagnosis[edit | edit source]
Diagnosis involves blood tests revealing absent serum ceruloplasmin, low levels of serum copper and iron, and elevated serum ferritin. MRI scans showing iron deposits in the brain can confirm the diagnosis.[4]
Prevention[edit | edit source]
Individuals at risk, such as siblings of those affected, should undergo genetic testing to identify carrier status. Prenatal testing is advised for families with a known mutation. Routine monitoring of hemoglobin and glucose tolerance is essential to prevent complications like diabetes.[4]
Treatment[edit | edit source]
Management includes iron chelation therapy with agents like desferrioxamine to reduce iron levels in the brain and liver. Fresh frozen plasma (FFP) can be administered to provide ceruloplasmin, helping decrease liver iron and improving neurological symptoms. Antioxidants such as vitamin E are used to mitigate tissue damage.[4]
See also[edit | edit source]
References[edit | edit source]
- ↑ , Aceruloplasminemia: molecular characterization of this disorder of iron metabolism, Proceedings of the National Academy of Sciences of the United States of America, Vol. 92(Issue: 7), pp. 2539–43, DOI: 10.1073/pnas.92.7.2539, PMID: 7708681, PMC: 42253,
- ↑ 2.0 2.1 , Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis., The American Journal of Clinical Nutrition, Vol. 67(Issue: 5 Suppl), pp. 972S–977S, DOI: 10.1093/ajcn/67.5.972S, PMID: 9587138,
- ↑ 3.0 3.1 3.2 3.3 Aceruloplasminemia Full text, Genetics Home Reference, U.S. National Library of Medicine, 10 February 2014,
- ↑ 4.0 4.1 4.2 4.3 Miyajima H., Aceruloplasminemia, GeneReviews, 1993, PMID: 20301666, Full text,
- ↑ , A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans, Nature Genetics, Vol. 9(Issue: 3), pp. 267–72, DOI: 10.1038/ng0395-267, PMID: 7539672,
External links[edit | edit source]
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