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Xu, R. Methylmalonic Acidemia with Homocystinuria. Encyclopedia. Available online: https://encyclopedia.pub/entry/4157 (accessed on 29 September 2026).
Xu R. Methylmalonic Acidemia with Homocystinuria. Encyclopedia. Available at: https://encyclopedia.pub/entry/4157. Accessed September 29, 2026.
Xu, Rita. "Methylmalonic Acidemia with Homocystinuria" Encyclopedia, https://encyclopedia.pub/entry/4157 (accessed September 29, 2026).
Xu, R. (2020, December 23). Methylmalonic Acidemia with Homocystinuria. In Encyclopedia. https://encyclopedia.pub/entry/4157
Xu, Rita. "Methylmalonic Acidemia with Homocystinuria." Encyclopedia. Web. 23 December, 2020.
Methylmalonic Acidemia with Homocystinuria
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/methylmalonic-acidemia-with-homocystinuria

Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol.

genetic conditions

References

  1. Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N,Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, FowlerB, Rutsch F, Baumgartner MR. Mutations in ABCD4 cause a new inborn error ofvitamin B12 metabolism. Nat Genet. 2012 Oct;44(10):1152-5. doi: 10.1038/ng.2386.
  2. 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.
  3. Froese DS, Gravel RA. Genetic disorders of vitamin B₁₂ metabolism: eightcomplementation groups--eight genes. Expert Rev Mol Med. 2010 Nov 29;12:e37. doi:10.1017/S1462399410001651. Review.
  4. Kräutler B. Biochemistry of B12-cofactors in human metabolism. SubcellBiochem. 2012;56:323-46. doi: 10.1007/978-94-007-2199-9_17. Review.
  5. Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, DobsonCM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, MorganK, Rosenblatt DS. Identification of the gene responsible for methylmalonicaciduria and homocystinuria, cblC type. Nat Genet. 2006 Jan;38(1):93-100.
  6. Rutsch F, Gailus S, Suormala T, Fowler B. LMBRD1: the gene for the cblF defectof vitamin B₁₂ metabolism. J Inherit Metab Dis. 2011 Feb;34(1):121-6. doi:10.1007/s10545-010-9083-9.
  7. Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I,Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, FowlerB, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH. An X-linked cobalamindisorder caused by mutations in transcriptional coregulator HCFC1. Am J HumGenet. 2013 Sep 5;93(3):506-14. doi: 10.1016/j.ajhg.2013.07.022.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 615
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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