Methylmalonic Acidemia

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Xu, R. Methylmalonic Acidemia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4154 (accessed on 21 September 2026).

Xu R. Methylmalonic Acidemia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4154. Accessed September 21, 2026.

Xu, Rita. "Methylmalonic Acidemia" Encyclopedia, https://encyclopedia.pub/entry/4154 (accessed September 21, 2026).

Xu, R. (2020, December 23). Methylmalonic Acidemia. In Encyclopedia. https://encyclopedia.pub/entry/4154

Xu, Rita. "Methylmalonic Acidemia." Encyclopedia. Web. 23 December, 2020.

Methylmalonic Acidemia

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/methylmalonic-acidemia

Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.

genetic conditions

References

Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF,Baumgartner MR, Fowler B. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med. 2008 Apr 3;358(14):1454-64. doi: 10.1056/NEJMoa072200.
Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C. Methylmalonic andpropionic aciduria. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):104-12.Review.
Fowler B, Leonard JV, Baumgartner MR. Causes of and diagnostic approach tomethylmalonic acidurias. J Inherit Metab Dis. 2008 Jun;31(3):350-60. doi:10.1007/s10545-008-0839-4.
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.
Hörster F, Hoffmann GF. Pathophysiology, diagnosis, and treatment ofmethylmalonic aciduria-recent advances and new challenges. Pediatr Nephrol. 2004 Oct;19(10):1071-4.
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/
Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS. Clinical and molecularheterogeneity in patients with the cblD inborn error of cobalamin metabolism. JPediatr. 2009 Apr;154(4):551-6. doi: 10.1016/j.jpeds.2008.10.043.
Ogier de Baulny H, Saudubray JM. Branched-chain organic acidurias. SeminNeonatol. 2002 Feb;7(1):65-74. Review.
Tanpaiboon P. Methylmalonic acidemia (MMA). Mol Genet Metab. 2005May;85(1):2-6. Review.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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