Genetic Conditions > 2-hydroxyglutaric aciduria >

References

These sources were used to develop the Genetics Home Reference condition summary on 2-hydroxyglutaric aciduria.

Goffette SM, Duprez TP, Nassogne MC, Vincent MF, Jakobs C, Sindic CJ. L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters. Eur J Neurol. 2006 May;13(5):499-504. PubMed citation
Muntau AC, Röschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, Hoffmann GF, Roscher AA. Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics. 2000 Jun;31(3):137-40. PubMed citation
Read MH, Bonamy C, Laloum D, Belloy F, Constans JM, Guillois B, Kottler ML, Verhoeven NM, Jakobs C. Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria. J Inherit Metab Dis. 2005;28(6):1149-50. PubMed citation
Rzem R, Van Schaftingen E, Veiga-da-Cunha M. The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Biochimie. 2006 Jan;88(1):113-6. Epub 2005 Jun 23. PubMed citation
Rzem R, Veiga-da-Cunha M, Noël G, Goffette S, Nassogne MC, Tabarki B, Schöller C, Marquardt T, Vikkula M, Van Schaftingen E. A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16849-54. Epub 2004 Nov 17. PubMed citation
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. Epub 2004 Dec 17. PubMed citation
Struys EA. D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect. J Inherit Metab Dis. 2006 Feb;29(1):21-9. Review. PubMed citation
Topçu M, Aydin OF, Yalçinkaya C, Haliloğlu G, Aysun S, Anlar B, Topaloğlu H, Turanli G, Yalnizoğlu D, Kesimer M, Coşkun T. L-2-hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr. 2005 Jan-Mar;47(1):1-7. PubMed citation
van der Knaap MS, Jakobs C, Hoffmann GF, Duran M, Muntau AC, Schweitzer S, Kelley RI, Parrot-Roulaud F, Amiel J, De Lonlay P, Rabier D, Eeg-Olofsson O. D-2-hydroxyglutaric aciduria: further clinical delineation. J Inherit Metab Dis. 1999 Jun;22(4):404-13. PubMed citation
Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C. Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. Hum Mutat. 2005 Oct;26(4):395-6. PubMed citation


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