World Library  
Flag as Inappropriate
Email this Article

Aceruloplasminemia

Article Id: WHEBN0003363020
Reproduction Date:

Title: Aceruloplasminemia  
Author: World Heritage Encyclopedia
Language: English
Subject: Inborn errors of metal metabolism, ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseases, African iron overload, Wilson's disease, Iron metabolism
Collection:
Publisher: World Heritage Encyclopedia
Publication
Date:
 

Aceruloplasminemia

Aceruloplasminemia
MRI hypointensity (white arrows) in the globus pallidi that indicates the presence of iron deficiencies which would be seen in a diagnosis of Aceruloplasminemia
Classification and external resources
ICD-10 E83.1
ICD-9-CM 275.0
OMIM 604290
DiseasesDB 30055

Aceruloplasminemia is a rare

  • GeneReviews/NCBI/NIH/UW entry on Aceruloplasminemia
  • OMIM entries on Aceruloplasminemia

External links

  1. ^ Harris, Zl; Takahashi, Y; Miyajima, H; Serizawa, M; Macgillivray, Rt; Gitlin, Jd (March 1995). "Aceruloplasminemia: molecular characterization of this disorder of iron metabolism". Proceedings of the National Academy of Sciences of the United States of America 92 (7): 2539–43.  
  2. ^ a b c 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.
  3. ^ a b c d e f g "Aceruloplasminemia". Genetics Home Reference. U.S. National Library of Medicine. 10 February 2014. Retrieved 11 February 2014. 
  4. ^ a b c d e Miyajima H. (1993). Pagon RA; Adam MP; Ardinger HH; Bird TD; Dolan CR; Fong CT; Smith RJH; Stephens K, eds. "Aceruloplasminemia". GeneReviews (University of Washington).  
  5. ^ Yoshida, K; Furihata, K; Takeda, S; Nakamura, A; Yamamoto, K; Morita, H; Hiyamuta, S; Ikeda, S; Shimizu, N; Yanagisawa, N (March 1995). "A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans". Nature Genetics 9 (3): 267–72.  

References

See also

To prevent the progression of symptoms of the disease, annual glucose tolerance tests beginning in early teen years to evaluate the onset of diabetes mellitus. Those at risk should avoid taking iron supplements.[4]

Children of affected individuals are obligate carriers for aceruloplasminemia. If the CP mutations has been identified in a related individual, prenatal testing is recommended. Siblings of those affected by the disease are at a 25% of aceruloplasminemia. In asymptomatic siblings, serum concentrations of hemoglobin and hemoglobin A1c should be monitored.[4]

Prevention

Treatment includes the use of iron chelating agents (such as desferrioxamine) to lower serum ferritin concentration, brain and liver iron stores, and to prevent progression of neurologic symptoms. This, combined with fresh-frozen human plasma (FFP) effectively in decreasing liver iron content. Repetitive use of FFP can even improve neurologic symptoms. Antioxidants such as vitamin E can be used simultaneously to prevent tissue damage to the liver and pancreas.[4]

Treatment

Diagnosis of this disorder depends on blood tests demonstrating the absence of serum ceruloplasmin, combined with low serum copper concentration, low serum iron concentration, high serum ferritin concentration, or increased hepatic iron concentration. MRI scans can also confirm a diagnosis; abnormal low intensities can indicate iron accumulation in the brain.[4]

Diagnosis

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene have the mutation. 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.[3]

Aceruloplasminemia is caused by a mutation (a five-base pair insertion in exon 7[2]) in the transferrin, which transports it to red blood cells to help carry oxygen. The CP gene mutation results in the production of ceruloplasmin protein that is unstable or nonfunctional by altering the open reading frame such that the amino acid ligands in the essential carboxyl terminal region are eliminated.[2] When ceruloplasmin is unavailable, transport of iron out of the body's tissues is impaired. The resulting iron accumulation damages cells in those tissues, leading to neurological dysfunction and other health problems.[3][5]

Aceruloplasminemia has an autosomal recessive pattern of inheritance.

Cause

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.[3]

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.[3]

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.[3]

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.[3] The type of neurological disruption corresponds to associated regions of iron deposition in the brain and liver.[4]

Symptoms

Contents

  • Symptoms 1
  • Cause 2
  • Diagnosis 3
  • Treatment 4
  • Prevention 5
  • See also 6
  • References 7
  • External links 8

Aceruloplasminemia belongs to the group of genetic disorders called neurodegeneration with brain iron accumulation (NBIA).

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.[3]

Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time. [2]

This article was sourced from Creative Commons Attribution-ShareAlike License; additional terms may apply. World Heritage Encyclopedia content is assembled from numerous content providers, Open Access Publishing, and in compliance with The Fair Access to Science and Technology Research Act (FASTR), Wikimedia Foundation, Inc., Public Library of Science, The Encyclopedia of Life, Open Book Publishers (OBP), PubMed, U.S. National Library of Medicine, National Center for Biotechnology Information, U.S. National Library of Medicine, National Institutes of Health (NIH), U.S. Department of Health & Human Services, and USA.gov, which sources content from all federal, state, local, tribal, and territorial government publication portals (.gov, .mil, .edu). Funding for USA.gov and content contributors is made possible from the U.S. Congress, E-Government Act of 2002.
 
Crowd sourced content that is contributed to World Heritage Encyclopedia is peer reviewed and edited by our editorial staff to ensure quality scholarly research articles.
 
By using this site, you agree to the Terms of Use and Privacy Policy. World Heritage Encyclopedia™ is a registered trademark of the World Public Library Association, a non-profit organization.
 


Copyright © World Library Foundation. All rights reserved. eBooks from Project Gutenberg are sponsored by the World Library Foundation,
a 501c(4) Member's Support Non-Profit Organization, and is NOT affiliated with any governmental agency or department.