User menu

L-2-Hydroxyglutaric aciduria, a disorder of metabolite repair.

Bibliographic reference Van Schaftingen, Emile ; Rzem, Rim ; Veiga da Cunha, Maria. L-2-Hydroxyglutaric aciduria, a disorder of metabolite repair.. In: Journal of Inherited Metabolic Disease, Vol. 32, no. 2, p. 135-142 (2009)
Permanent URL http://hdl.handle.net/2078.1/19699
  1. Acheson SA, Kirkman HN, Wolfenden R (1988) Equilibrium of 5,6-hydration of NADH and mechanism of ATP-dependent dehydration. Biochemistry 27: 7371–7375. doi: 10.1021/bi00419a030 .
  2. Achouri Y, Noël G, Vertommen D, Rider MH, Veiga-Da-Cunha M, Van Schaftingen E (2004) Identification of a dehydrogenase acting on d-2-hydroxyglutarate. Biochem J 381: 35–42. doi: 10.1042/BJ20031933 .
  3. Barbot C, Fineza I, Diogo L, et al (1997) l-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients. Brain Dev 19: 268–273. doi: 10.1016/S0387-7604(97)00574-3 .
  4. Barth PG, Hoffmann GF, Jaeken J, et al (1993) l-2-Hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on l-2-hydroxyacid dehydrogenase. J Inherit Metab Dis 16: 753–761. doi: 10.1007/BF00711907 .
  5. Buckel W, Miller SL (1987) Equilibrium constants of several reactions involved in the fermentation of glutamate. Eur J Biochem 164: 565–569. doi: 10.1111/j.1432-1033.1987.tb11164.x .
  6. Chen E, Nyhan WL, Jakobs C, et al (1996) l-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis 19: 335–343. doi: 10.1007/BF01799264 .
  7. Clarke S (2003) Aging as war between chemical and biochemical processes: protein methylation and the recognition of age-damaged proteins for repair. Ageing Res Rev 2: 263–285. doi: 10.1016/S1568-1637(03)00011-4 .
  8. da Silva CG, Bueno AR, Schuck PF, et al (2003) l-2-Hydroxyglutaric acid inhibits mitochondrial creatine kinase activity from cerebellum of developing rats. Int J Dev Neurosci 21: 217–224. doi: 10.1016/S0736-5748(03)00035-2 .
  9. Delpierre G, Rider MH, Collard F, et al (2000) Identification, cloning, and heterologous expression of a mammalian fructosamine-3-kinase. Diabetes 49: 1627–1634. doi: 10.2337/diabetes.49.10.1627 .
  10. Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK (1980) l-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis 3: 109–112. doi: 10.1007/BF02312543 .
  11. Galperin MY, Moroz OV, Wilson KS, Murzin AG (2006) House cleaning, a part of good housekeeping. Mol Microbiol 59: 5–19. doi: 10.1111/j.1365-2958.2005.04950.x .
  12. Graupner M, Xu H, White RH (2000) Identification of an archaeal 2-hydroxy acid dehydrogenase catalyzing reactions involved in coenzyme biosynthesis in methanoarchaea. J Bacteriol 182: 3688–3692. doi: 10.1128/JB.182.13.3688-3692.2000 .
  13. Haliloglu G, Jobard F, Oguz KK, et al (2008) l-2-Hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: Neuroimaging Findings. Neuropediatrics 39: 119–122. doi: 10.1055/s-2008-1081217 .
  14. Jansen Gerbert A., Wanders Ronald J.A., l-2-Hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for l-2-hydroxyglutaric acidemia, 10.1016/0925-4439(93)90121-g
  15. Junqueira D, Brusque AM, Porciúncula LO, et al (2003) Effects of l-2-hydroxyglutaric acid on various parameters of the glutamatergic system in cerebral cortex of rats. Metab Brain Dis 18: 233–243. doi: 10.1023/A:1025559200816 .
  16. Kalliri E, Mulrooney SB, Hausinger RP (2008) Identification of Escherichia coli YgaF as an l-2-hydroxyglutarate oxidase. J Bacteriol 190: 3793–3798. doi: 10.1128/JB.01977-07 .
  17. Kamoun P, Richard V, Rabier D, Saudubray JM (2002) Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondria. J Inherit Metab Dis 25: 1–6. doi: 10.1023/A:1015195009330 .
  18. Kardon T, Noël G, Vertommen D, Van Schaftingen E (2006) Identification of the gene encoding hydroxyacid-oxoacid transhydrogenase, an enzyme that metabolizes 4-hydroxybutyrate. FEBS Lett 580: 2347–2350. doi: 10.1016/j.febslet.2006.02.082 .
  19. Kaufman EE, Nelson T, Fales HM, Levin DM (1988) Isolation and characterization of a hydroxyacid-oxoacid transhydrogenase from rat kidney mitochondria. J Biol Chem 263: 16872–16879.
  20. Kölker S, Sauer SW, Hoffmann GF, et al (2008) Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism. J Inherit Metab Dis 31: 194–204.
  21. Latini A, Scussiato K, Rosa RB, et al (2003) Induction of oxidative stress by l-2-hydroxyglutaric acid in rat brain. JNeurosci Res 74: 103–110. doi: 10.1002/jnr.10735 .
  22. Lindahl G, Lindstedt G, Lindstedt S (1967) Metabolism of 2-amino-5-hydroxyadipic acid in the rat. Arch Biochem Biophys 119: 347–352. doi: 10.1016/0003-9861(67)90463-8 .
  23. Maliekal P, Vertommen D, Delpierre G, Van Schaftingen E (2006) Identification of the sequence encoding N-acetylneuraminate-9-phosphate phosphatase. Glycobiology 16: 165–172. doi: 10.1093/glycob/cwj050 .
  24. Molenaar D, van der Rest ME, Petrović S (1998) Biochemical and genetic characterization of the membrane-associated malate dehydrogenase (acceptor) from Corynebacterium glutamicum. Eur J Biochem 254: 395–403. doi: 10.1046/j.1432-1327.1998.2540395.x .
  25. Moroni I., Bugiani M., D'Incerti L., Maccagnano C., Rimoldi M., Bissola L., Pollo B., Finocchiaro G., Uziel G., L-2-hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition?, 10.1212/01.wnl.0000125335.21381.87
  26. Moskovitz J (2005) Roles of methionine sulfoxide reductases in antioxidant defense, protein regulation and survival. CurrPharm Des 11: 1451–1457. doi: 10.2174/1381612053507846 .
  27. Oppenheimer NJ, Kaplan NO (1974) Glyceraldehyde-3-phosphate dehydrogenase catalyzed hydration of the 5-6 double bond of reduced beta-nicotinamide adenine dinucleotide (betaNADH). Formation of beta-6-hydroxy-1,4,5,6-tetrahydronicotinamide adenine dinucleotide. Biochemistry 13: 4685–4694. doi: 10.1021/bi00720a002 .
  28. Ozişik PA, Akalan N, Palaoğlu S, Topçu M. (2002) Medulloblastoma in a child with the metabolic disease l-2-hydroxyglutaric aciduria. Pediatr Neurosurg 37: 22–26. doi: 10.1159/000065097 .
  29. Richard JP (1991) Kinetic parameters for the elimination reaction catalyzed by triosephosphate isomerase and an estimation of the reaction’s physiological significance. Biochemistry 30: 4581–4585. doi: 10.1021/bi00232a031 .
  30. Rzem R, Veiga-da-Cunha M, Noel G, et al (2004) 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: 16849–16854. doi: 10.1073/pnas.0404840101 .
  31. 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: 113–116. doi: 10.1016/j.biochi.2005.06.005 .
  32. Rzem R, Vincent MF, Van Schaftingen E, Veiga-da-Cunha M (2007) l-2-hydroxyglutaric aciduria, a defect of metabolite repair. J Inherit Metab Dis 30: 681–689. doi: 10.1007/s10545-007-0487-0 .
  33. Samuraki M, Komai K, Hasegawa Y, et al (2008) A successfully treated adult patient with l-2-hydroxyglutaric aciduria. Neurology 70: 1051–1052. doi: 10.1212/01.wnl.0000287141.90944.95 .
  34. Sass JO, Jobard F, Topçu M, et al (2008) l-2-Hydroxyglutaric aciduria: Identification of ten novel mutations in the L2HGDH gene. J Inherit Metab Dis. doi: 10.1007/s10545-008-0855-4 .
  35. Sedgwick B, Bates PA, Paik J, Jacobs SC, Lindahl T (2007) Repair of alkylated DNA: recent advances. DNA Repair (Amst) 6: 429–442. doi: 10.1016/j.dnarep.2006.10.005 .
  36. Struys EA, Verhoeven NM, Roos B, Jakobs C (2003) Disease-related metabolites in culture medium of fibroblasts from patients with d-2-hydroxyglutaric aciduria, l-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria. Clin Chem 49: 1133–1138. doi: 10.1373/49.7.1133 .
  37. Struys EA, Verhoeven NM, Brunengraber H, Jakobs C (2004) Investigations by mass isotopomer analysis of the formation of d-2-hydroxyglutarate by cultured lymphoblasts from two patients with d-2-hydroxyglutaric aciduria. FEBS Lett 557: 115–120. doi: 10.1016/S0014-5793(03)01459-5 .
  38. Struys EA, Salomons GS, Achouri Y et al (2005a) Mutations in the d-2-hydroxyglutarate dehydrogenase gene cause d-2-hydroxyglutaric aciduria. Am J Hum Genet 76: 358–360. doi: 10.1086/427890 .
  39. Struys EA, Korman SH, Salomons GS et al (2005b) Mutations in phenotypically mild d-2-hydroxyglutaric aciduria. Ann Neurol 58: 626–630. doi: 10.1002/ana.20559 .
  40. 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: 690–693. doi: 10.1007/s10545-007-0697-5 .
  41. Topçu M, Jobard F, Halliez S, et al (2004) l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet 13: 2803–2811. doi: 10.1093/hmg/ddh300 .
  42. Topçu M, Aydin OF, Yalcinkaya C (2005) l-2-Hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr 47: 1–7.
  43. van Beelen P, Stassen AP, Bosch JW, Vogels GD, Guijt W, Haasnoot CA (1984) Elucidation of the structure of methanopterin, a coenzyme from Methanobacterium thermoautotrophicum, using two-dimensional nuclear-magnetic-resonance techniques. Eur J Biochem 138: 563–571. doi: 10.1111/j.1432-1033.1984.tb07951.x .
  44. Veiga da-Cunha M, Jacquemin P, Delpierre G, et al (2006) Increased protein glycation in fructosamine 3-kinase-deficient mice. Biochem J 399: 257–264.
  45. Vilarinho L, Cardoso ML, Gaspar P, et al (2005) Novel L2HGDH mutations in 21 patients with l-2-hydroxyglutaric aciduria of Portuguese origin. Hum Mutat 26: 395–396. doi: 10.1002/humu.9373 .
  46. Wanders RJ, Vilarinho L, Hartung HP, et al (1997) l-2-Hydroxyglutaric aciduria: normal l-2-hydroxyglutarate dehydrogenase activity in liver from two new patients. JInherit Metab Dis 20: 725–726. doi: 10.1023/A:1005355316599 .
  47. Weil-Malherbe Hans, The oxidation ofl(−)α-hydroxyglutaric acid in animal tissues, 10.1042/bj0312080
  48. Wright SK, Viola RE (2001) Alteration of the specificity of malate dehydrogenase by chemical modulation of an active site arginine. J Biol Chem 276: 31151–31155. doi: 10.1074/jbc.M100892200 .
  49. Yilmaz K (2008) Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria. Eur J Paediatr Neurol. doi: 10.1016/j.ejpn.2008.01.003 .
  50. Schatz L, Segal HL (1969) Reduction of alpha-ketoglutarate by homogeneous lactic dehydrogenase X of testicular tissue. J Biol Chem 244: 4393–4397.