A New Mutation in a Case of Methyl-Malonic Acidemia

Authors

  • Mohammad hossein Imanieh Student research committee, Shiraz university f medical sciences, Shiraz
  • Zohreh Karamizadeh Department of pediatric endocrinology, Namazi hospital, Shiraz university of medical sciences, Shiraz
  • Forough Saki 1- Department of pediatric endocrinology, Namazi hospital, Shiraz university of medical sciences, Shiraz 2- Student research committee, Shiraz university of medical sciences, Shiraz

DOI:

https://doi.org/10.31661/gmj.v2i3.91

Keywords:

Methyl-malonic academia, Mutation, Skin manifestations

References

Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, et al. Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB). Pediatric research. 2007;62(2):225-30.

Deodato F, Boenzi S, Santorelli FM, Dionisiâ€Vici C, editors. Methylmalonic and propionic aciduria. American Journal of Medical Genetics Part C: Seminars in Medical Genetics; 2006: Wiley Online Library.

Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, et al. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proceedings of the National Academy of Sciences. 2002;99(24):15554-9.

Fowler B, Leonard J, Baumgartner M. Causes of and diagnostic approach to methylmalonic acidurias. Journal of inherited metabolic disease. 2008;31(3):350-60.

Lernerâ€Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, et al. Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. Human mutation. 2004;24(6):509-16.

Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, et al. Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. Molecular genetics and metabolism. 2004;82(4):329-33.

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Published

2013-08-24

Issue

Vol. 2 No. 3 (2013): September 2013

Section

Letter to Editor

License

Copyright (c) 2013 Galen Medical Journal

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This work is licensed under a Creative Commons Attribution 4.0 International License.

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