L2HGDH

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L-2-hydroxyglutarate dehydrogenase, also known as L2HGDH, is a human gene.

This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation.

Further reading

• Duran M, Kamerling JP, Bakker HD; et al. (1981). "L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?". J. Inherit. Metab. Dis. 3 (4): 109–12. PMID 6787330.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Jansen GA, Wanders RJ (1993). "L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia". Biochim. Biophys. Acta. 1225 (1): 53–6. PMID 8241290.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Topçu M, Jobard F, Halliez S; et al. (2006). "L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1". Hum. Mol. Genet. 13 (22): 2803–11. doi:10.1093/hmg/ddh300. PMID 15385440.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rzem R, Veiga-da-Cunha M, Noël G; et al. (2005). "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. 101 (48): 16849–54. doi:10.1073/pnas.0404840101. PMID 15548604.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rzem R, Van Schaftingen E, Veiga-da-Cunha M (2006). "The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase". Biochimie. 88 (1): 113–6. doi:10.1016/j.biochi.2005.06.005. PMID 16005139.CS1 maint: Multiple names: authors list (link)
• Vilarinho L, Cardoso ML, Gaspar P; et al. (2006). "Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin". Hum. Mutat. 26 (4): 395–6. doi:10.1002/humu.9373. PMID 16134148.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Struys EA, Gibson KM, Jakobs C (2007). "Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid". J. Inherit. Metab. Dis. 30 (5): 690–3. doi:10.1007/s10545-007-0697-5. PMID 17876720.CS1 maint: Multiple names: authors list (link)