A New Mutation in a Case of Methyl-Malonic Acidemia
DOI:
https://doi.org/10.31661/gmj.v2i3.91Keywords:
Methyl-malonic academia, Mutation, Skin manifestationsReferences
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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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