Skip to main content
Advertisement

Main menu

  • Home
  • Content
    • Current Issue
    • Publication Preview--Ahead of Print
    • Past Issue Archive
    • Case of the Week Archive
    • Classic Case Archive
    • Case of the Month Archive
  • For Authors
  • About Us
    • About AJNR
    • Editorial Board
    • American Society of Neuroradiology
  • Submit a Manuscript
  • Podcasts
    • Subscribe on iTunes
    • Subscribe on Stitcher
  • More
    • Subscribers
    • Permissions
    • Advertisers
    • Alerts
    • Feedback
  • Other Publications
    • ajnr

User menu

  • Subscribe
  • Alerts
  • Log in

Search

  • Advanced search
American Journal of Neuroradiology
American Journal of Neuroradiology

American Journal of Neuroradiology

  • Subscribe
  • Alerts
  • Log in

Advanced Search

  • Home
  • Content
    • Current Issue
    • Publication Preview--Ahead of Print
    • Past Issue Archive
    • Case of the Week Archive
    • Classic Case Archive
    • Case of the Month Archive
  • For Authors
  • About Us
    • About AJNR
    • Editorial Board
    • American Society of Neuroradiology
  • Submit a Manuscript
  • Podcasts
    • Subscribe on iTunes
    • Subscribe on Stitcher
  • More
    • Subscribers
    • Permissions
    • Advertisers
    • Alerts
    • Feedback
  • Follow AJNR on Twitter
  • Visit AJNR on Facebook
  • Follow AJNR on Instagram
  • Join AJNR on LinkedIn
  • RSS Feeds
Research ArticleBrain
Open Access

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

Z. Patay, J.C. Mills, U. Löbel, A. Lambert, A. Sablauer and D.W. Ellison
American Journal of Neuroradiology May 2012, 33 (5) 940-943; DOI: https://doi.org/10.3174/ajnr.A2869
Z. Patay
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
J.C. Mills
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
U. Löbel
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
A. Lambert
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
A. Sablauer
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
D.W. Ellison
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Figures & Data
  • Info & Metrics
  • References
  • PDF
Loading

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
PreviousNext
Back to top

In this issue

American Journal of Neuroradiology: 33 (5)
American Journal of Neuroradiology
Vol. 33, Issue 5
1 May 2012
  • Table of Contents
  • Index by author
Advertisement
Print
Download PDF
Article Alerts
Sign In to Email Alerts with your Email Address
Email Article

Thank you for your interest in spreading the word on American Journal of Neuroradiology.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data
(Your Name) has sent you a message from American Journal of Neuroradiology
(Your Name) thought you would like to see the American Journal of Neuroradiology web site.
Citation Tools
Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data
Z. Patay, J.C. Mills, U. Löbel, A. Lambert, A. Sablauer, D.W. Ellison
American Journal of Neuroradiology May 2012, 33 (5) 940-943; DOI: 10.3174/ajnr.A2869

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Share
Cerebral Neoplasms in L-2 Hydroxyglutaric Aciduria: 3 New Cases and Meta-Analysis of Literature Data
Z. Patay, J.C. Mills, U. Löbel, A. Lambert, A. Sablauer, D.W. Ellison
American Journal of Neuroradiology May 2012, 33 (5) 940-943; DOI: 10.3174/ajnr.A2869
del.icio.us logo Digg logo Reddit logo Twitter logo CiteULike logo Facebook logo Google logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Jump to section

  • Article
    • Abstract
    • ABBREVIATIONS:
    • Case Series and Review of Literature Data
    • Discussion
    • References
  • Figures & Data
  • Info & Metrics
  • References
  • PDF

Related Articles

  • No related articles found.
  • Scopus
  • PubMed
  • Google Scholar

Cited By...

  • Biochemical and Epigenetic Insights into L-2-Hydroxyglutarate, a Potential Therapeutic Target in Renal Cancer
  • Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk
  • Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers
  • Scopus (32)
  • Crossref
  • Google Scholar

This article has not yet been cited by articles in journals that are participating in Crossref Cited-by Linking.

More in this TOC Section

  • Fast Contrast-Enhanced 4D MRA and 4D Flow MRI Using Constrained Reconstruction (HYPRFlow): Potential Applications for Brain Arteriovenous Malformations
  • Multimodal CT Provides Improved Performance for Lacunar Infarct Detection
  • Optimal MRI Sequence for Identifying Occlusion Location in Acute Stroke: Which Value of Time-Resolved Contrast-Enhanced MRA?
Show more Brain

Similar Articles

Advertisement

News and Updates

  • 2018 Lucien Levy Best Research Article Award
  • Thanks to our 2019 Distinguished Reviewers
  • Press Releases

Resources

  • Evidence-Based Medicine Level Guide
  • How to Participate in a Tweet Chat
  • AJNR Podcast Archive
  • Ideas for Publicizing Your Research
  • Librarian Resources
  • Terms and Conditions

Opportunities

  • Share Your Art in Perspectives
  • Get Peer Review Credit from Publons
  • Moderate a Tweet Chat

American Society of Neuroradiology

  • Neurographics
  • ASNR Annual Meeting
  • Fellowship Portal
  • Position Statements

© 2019 by the American Society of Neuroradiology | Print ISSN: 0195-6108 Online ISSN: 1936-959X

Powered by HighWire