Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data

References

1. 1.↵
   1. Moroni I,
   2. Bugiani M,
   3. D'Incerti L,
   4. et al

   . L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition? Neurology 2004;62:1882–84

   Abstract/FREE Full Text
2. 2.↵
   1. Haliloglu G,
   2. Jobard F,
   3. Oguz KK,
   4. et al

   . L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings. Neuropediatrics 2008;39:119–22

   CrossRefPubMedWeb of Science
3. 3.↵
   1. Yazici N,
   2. Sarialioglu F,
   3. Alkan O,
   4. et al

   . Glutaric aciduria type II [corrected] and brain tumors: a case report and review of the literature. J Pediatr Hematol Oncol 2009;31:865–69. Erratum in J Pediatr Hematol Oncol 2010:32:331

   CrossRefPubMed
4. 4.↵
   1. Rzem R,
   2. Van SE,
   3. Veiga-da-Cunha M

   . The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Biochimie 2006;88:113–16

   CrossRefPubMed
5. 5.↵
   1. Rzem R,
   2. Vincent MF,
   3. Van SE,
   4. et al

   . L-2-hydroxyglutaric aciduria, a defect of metabolite repair. J Inherit Metab Dis 2007;30:681–89

   CrossRefPubMed
6. 6.↵
   1. Duran M,
   2. Kamerling JP,
   3. Bakker HD,
   4. et al

   . L-2-hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis 1980;3:109–12

   CrossRefPubMed
7. 7.↵
   1. Topcu M,
   2. Aydin OF,
   3. Yalcinkaya C,
   4. et al

   . L-2-hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr 2005;47:1–7

   PubMed
8. 8.↵
   1. Topcu M,
   2. Jobard F,
   3. Halliez S,
   4. et al

   . L-2-hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet 2004;13:2803–11

   Abstract/FREE Full Text
9. 9.↵
   1. Rogers RE,
   2. Deberardinis RJ,
   3. Klesse LJ,
   4. et al

   . Wilms tumor in a child with L-2-hydroxyglutaric aciduria. Pediatr Dev Pathol 2010;13:408–11. Epub 2010 Jan 11

   CrossRefPubMed
10. 10.↵
    1. Wanders RJ,
    2. Vilarinho L,
    3. Hartung HP,
    4. et al

    . L-2-hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients. J Inherit Metab Dis 1997;20:725–26

    CrossRefPubMedWeb of Science
11. 11.↵
    1. Chen E,
    2. Nyhan WL,
    3. Jakobs C,
    4. et al

    . l-2-hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis 1996;19:335–43

    CrossRefPubMedWeb of Science
12. 12.↵
    1. Aghili M,
    2. Zahedi F,
    3. Rafiee E

    . Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. J Neurooncol 2009;91:233–36

    CrossRefPubMed
13. 13.↵
    1. Jequier Gygax M,
    2. Roulet-Perez E,
    3. Meagher-Villemure K,
    4. et al

    . Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria. Eur J Pediatr 2009;168:957–62

    CrossRefPubMed
14. 14.↵
    1. Periasamy V,
    2. Rudwan M,
    3. Yadav G,
    4. et al

    . Epilepsy in a young adult caused by L-2-hydroxyglutaric aciduria: a case report. Med Princ Pract 2008;17:258–61

    CrossRefPubMed
15. 15.↵
    1. Sener RN

    . L-2 hydroxyglutaric aciduria: proton magnetic resonance spectroscopy and diffusion magnetic resonance imaging findings. J Comput Assist Tomogr 2003;27:38–43

    CrossRefPubMed
16. 16.↵
    1. Karatas H,
    2. Saygi S,
    3. Bastan B,
    4. et al

    . L-2-hydroxyglutaric aciduria: report of four Turkish adult patients. Neurologist 2010;16:44–46

    CrossRefPubMed
17. 17.↵
    1. Saidha S,
    2. Murphy S,
    3. McCarthy P,
    4. et al

    . L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration. J Neurol 2010;257:146–48

    CrossRefPubMed
18. 18.↵
    1. Clerc C,
    2. Bataillard M,
    3. Richard P,
    4. et al

    . An adult form of L-2-hydroxyglutaric aciduria revealed by tremor. Eur Neurol 2000;43:119–20

    CrossRefPubMed
19. 19.↵
    1. Mahfoud A,
    2. Dominguez CL,
    3. Perez A,
    4. et al

    . L-2-hydroxyglutaric aciduria: clinical, biochemical and neuroradiological findings in two Venezuelan patients [in Spanish]. Rev Neurol 2004;39:343–46

    PubMed
20. 20.↵
    1. Larnaout A,
    2. Hentati F,
    3. Belal S,
    4. et al

    . Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria. Acta Neuropathol 1994;88:367–70

    PubMed
21. 21.↵
    1. Barth PG,
    2. Hoffmann GF,
    3. Jaeken J,
    4. et al

    . L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inherit Metab Dis 1993;16:753–61

    CrossRefPubMedWeb of Science
22. 22.↵
    1. Barth PG,
    2. Hoffmann GF,
    3. Jaeken J,
    4. et al

    . L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol 1992;32:66–71

    CrossRefPubMedWeb of Science
23. 23.↵
    1. Sztriha L,
    2. Gururaj A,
    3. Vreken P,
    4. et al

    . L-2-hydroxyglutaric aciduria in two siblings. Pediatr Neurol 2002;27:141–44

    CrossRefPubMedWeb of Science
24. 24.↵
    1. Zafeiriou DI,
    2. Sewell A,
    3. Savvopoulou-Augoustidou P,
    4. et al

    . L-2-hydroxyglutaric aciduria presenting as status epilepticus. Brain Dev 2001;23:255–57

    CrossRefPubMedWeb of Science
25. 25.↵
    1. Barbot C,
    2. Fineza I,
    3. Diogo L,
    4. et al

    . L-2-hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients. Brain Dev 1997;19:268–73

    CrossRefPubMedWeb of Science
26. 26.↵
    1. D'Incerti L,
    2. Farina L,
    3. Moroni I,
    4. et al

    . L-2-hydroxyglutaric aciduria: MRI in seven cases. Neuroradiology 1998;40:727–33

    CrossRefPubMedWeb of Science
27. 27.↵
    1. Seijo-Martinez M,
    2. Navarro C,
    3. Castro del RM,
    4. et al

    . L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. Arch Neurol 2005;62:666–70

    CrossRefPubMed
28. 28.↵
    1. Shafeghati Y,
    2. Vakili G,
    3. Entezari A

    . L-2-hydroxyglutaric aciduria: a report of six cases and review of the literature. Arch Iran Med 2006;9:165–69

    PubMed
29. 29.↵
    1. Goffette SM,
    2. Duprez TP,
    3. Nassogne MC,
    4. et al

    . L-2-hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters. Eur J Neurol 2006;13:499–504

    CrossRefPubMed
30. 30.↵
    1. Haworth JC,
    2. Dilling LA,
    3. Seargeant LE

    . Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and Northwestern Ontario. CMAJ 1991;145:123–29

    Abstract
31. 31.↵
    1. Rzem R,
    2. Veiga-da-Cunha M,
    3. Noel G,
    4. et al

    . 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;101:16849–54. Epub 2004 Nov 17

    Abstract/FREE Full Text
32. 32.↵
    1. Wilcken B,
    2. Pitt J,
    3. Heath D,
    4. et al

    . L-2-hydroxyglutaric aciduria: three Australian cases. J Inherit Metab Dis 1993;16:501–04

    CrossRefPubMedWeb of Science
33. 33.↵
    1. Lee C,
    2. Born M,
    3. Salomons GS,
    4. et al

    . Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria. J Child Neurol 2006;21:538–40

    Abstract/FREE Full Text
34. 34.↵
    1. Fujitake J,
    2. Ishikawa Y,
    3. Fujii H,
    4. et al

    . L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family. J Neurol 1999;246:378–82

    CrossRefPubMedWeb of Science
35. 35.↵
    1. Warmuth-Metz M,
    2. Becker G,
    3. Bendszus M,
    4. et al

    . Spinal canal stenosis in L-2-hydroxyglutaric aciduria. Arch Neurol 2000;57:1635–37

    CrossRefPubMed
36. 36.↵
    1. Ozişik PA,
    2. Akalan N,
    3. Palaoğlu S,
    4. et al

    . Medulloblastoma in a child with the metabolic disease L-2-hydroxyglutaric aciduria. Pediatr Neurosurg 2002;37:22–26

    CrossRefPubMed
37. 37.↵
    1. de Klerk JB,
    2. Huijmans JG,
    3. Stroink H,
    4. et al

    . L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship. Neuropediatrics 1997;28:314–17

    CrossRefPubMed
38. 38.↵
    1. Topcu M,
    2. Erdem G,
    3. Saatci I,
    4. et al

    . Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease. J Child Neurol 1996;11:373–77

    Abstract/FREE Full Text
39. 39.↵
    1. Hanefeld F,
    2. Kruse B,
    3. Bruhn H,
    4. et al

    . In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia. Pediatr Res 1994;35:614–16

    PubMedWeb of Science
40. 40.↵
    1. Moroni I,
    2. D'Incerti L,
    3. Farina L,
    4. et al

    . Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci 2000;21:103–08

    CrossRefPubMedWeb of Science
41. 41.↵
    1. Muntau AC,
    2. Roschinger W,
    3. Merkenschlager A,
    4. et al

    . Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics 2000;31:137–40

    CrossRefPubMed
42. 42.↵
    1. van der Knaap MS,
    2. Valk J

    1. van der Knaap MS

    . L-2-hydroxyglutaric aciduria. In: van der Knaap MS, Valk J eds. Magnetic Resonance of Myelination and Myelin Disorders. 3rd ed. Berlin, Germany: Springer-Verlag; 2005:334–37
43. 43.↵
    1. Dang L,
    2. White DW,
    3. Gross S,
    4. et al

    . Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 2009;462:739–44

    CrossRefPubMedWeb of Science
44. 44.↵
    1. Parsons DW,
    2. Jones S,
    3. Zhang X,
    4. et al

    . An integrated genomic analysis of human glioblastoma multiforme. Science 2008;321:1807–12

    Abstract/FREE Full Text
45. 45.↵
    1. Balss J,
    2. Meyer J,
    3. Mueller W,
    4. et al

    . Analysis of the IDH1: codon 132 mutation in brain tumors. Acta Neuropathol 2008;116:597–602. Epub 2008 Nov 5

    CrossRefPubMedWeb of Science
46. 46.↵
    1. Musrati RA,
    2. Kollarova M,
    3. Mernik N,
    4. et al

    . Malate dehydrogenase: distribution, function and properties. Gen Physiol Biophys 1998;17:193–210

    PubMedWeb of Science
47. 47.↵
    1. Van SE,
    2. Rzem R,
    3. Veiga-da-Cunha M

    . L-2-Hydroxyglutaric aciduria, a disorder of metabolite repair. J Inherit Metab Dis 2009;32:135–42

    CrossRefPubMedWeb of Science
48. 48.↵
    1. Yan H,
    2. Parsons DW,
    3. Jin G,
    4. et al

    . IDH1 and IDH2 mutations in gliomas. N Engl J Med 2009;360:765–73

    CrossRefPubMedWeb of Science
49. 49.↵
    1. Gross S,
    2. Cairns RA,
    3. Minden MD,
    4. et al

    . Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations. J Exp Med 2010;207:339–44

    Abstract/FREE Full Text
50. 50.↵
    1. Larnaout A,
    2. Amouri R,
    3. Neji S,
    4. et al

    . Osteoma of the calvaria in L-2-hydroxyglutaric aciduria. J Inherit Metab Dis 2007;30:980