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Yang, C. 2-hydroxyglutaric aciduria. Encyclopedia. Available online: https://encyclopedia.pub/entry/3966 (accessed on 27 September 2026).
Yang C. 2-hydroxyglutaric aciduria. Encyclopedia. Available at: https://encyclopedia.pub/entry/3966. Accessed September 27, 2026.
Yang, Catherine. "2-hydroxyglutaric aciduria" Encyclopedia, https://encyclopedia.pub/entry/3966 (accessed September 27, 2026).
Yang, C. (2020, December 23). 2-hydroxyglutaric aciduria. In Encyclopedia. https://encyclopedia.pub/entry/3966
Yang, Catherine. "2-hydroxyglutaric aciduria." Encyclopedia. Web. 23 December, 2020.
2-hydroxyglutaric aciduria
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/2-hydroxyglutaric-aciduria

2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).

genetic conditions

References

  1. Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J,Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK,Webster R, Jakobs C, Salomons GS. Evidence for genetic heterogeneity inD-2-hydroxyglutaric aciduria. Hum Mutat. 2010 Mar;31(3):279-83. doi:10.1002/humu.21186.
  2. Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis. 2012Jul;35(4):571-87. doi: 10.1007/s10545-012-9462-5.
  3. Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van derKnaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK,Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS. IDH2 mutations in patients withD-2-hydroxyglutaric aciduria. Science. 2010 Oct 15;330(6002):336. doi:10.1126/science.1192632.
  4. Muntau AC, Röschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, DuranM, Hoffmann GF, Roscher AA. Combined D-2- and L-2-hydroxyglutaric aciduria withneonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaricaciduria? Neuropediatrics. 2000 Jun;31(3):137-40.
  5. Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, KranendijkM, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T,Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R,Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS,Jakobs C, Salomons GS. Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet.2013 Apr 4;92(4):627-31. doi: 10.1016/j.ajhg.2013.03.009.
  6. Rzem R, Veiga-da-Cunha M, Noël G, Goffette S, Nassogne MC, Tabarki B, SchöllerC, Marquardt T, Vikkula M, Van Schaftingen E. A gene encoding a putativeFAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated inL-2-hydroxyglutaric aciduria. Proc Natl Acad Sci U S A. 2004 Nov30;101(48):16849-54.
  7. Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ,Verhoeven NM, Jakobs C. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet. 2005 Feb;76(2):358-60.
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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 : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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