MMUT Gene

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Tang, P. MMUT Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/6003 (accessed on 20 September 2026).

Tang P. MMUT Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/6003. Accessed September 20, 2026.

Tang, Peter. "MMUT Gene" Encyclopedia, https://encyclopedia.pub/entry/6003 (accessed September 20, 2026).

Tang, P. (2021, January 04). MMUT Gene. In Encyclopedia. https://encyclopedia.pub/entry/6003

Tang, Peter. "MMUT Gene." Encyclopedia. Web. 04 January, 2021.

MMUT Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/mmut

Methylmalonyl-CoA mutase

genes

References

Acquaviva C, Benoist JF, Pereira S, Callebaut I, Koskas T, Porquet D, Elion J.Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 Europeanpatients affected by mut(o) and mut- forms of methylmalonic acidemia:identification of 29 novel mutations in the MUT gene. Hum Mutat. 2005Feb;25(2):167-76. Citation on PubMed
Benoist JF, Acquaviva C, Callebaut I, Guffon N, Ogier de Baulny H, Mornon JP, Porquet D, Elion J. Molecular and structural analysis of two novel mutations in apatient with mut(-) methylmalonyl-CoA deficiency. Mol Genet Metab. 2001Feb;72(2):181-4. Citation on PubMed
Chandler RJ, Venditti CP. Genetic and genomic systems to study methylmalonicacidemia. Mol Genet Metab. 2005 Sep-Oct;86(1-2):34-43. Epub 2005 Sep 22. Review. Citation on PubMed or Free article on PubMed Central
Fuchshuber A, Mucha B, Baumgartner ER, Vollmer M, Hildebrandt F. mut0methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutaseincluding a deletion-insertion mutation. Hum Mutat. 2000 Aug;16(2):179. Citation on PubMed
Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B,Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER. Long-term outcome inmethylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA,cblB). Pediatr Res. 2007 Aug;62(2):225-30. Citation on PubMed
Manoli I, Sloan JL, Venditti CP. Isolated Methylmalonic Acidemia. 2005 Aug 16 [updated 2016 Dec 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1231/ Citation on PubMed
Peters HL, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG, Ioannou PA. Molecular studies in mutase-deficient (MUT) methylmalonic aciduria:identification of five novel mutations. Hum Mutat. 2002 Nov;20(5):406. Citation on PubMed
Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, Rosenblatt DS. Spectrum of mutations in mut methylmalonic acidemia andidentification of a common Hispanic mutation and haplotype. Hum Mutat. 2006Jan;27(1):31-43. Citation on PubMed

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Subjects: Genetics & Heredity

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Update Date: 04 Jan 2021

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