L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: Neuroimaging findings

Neuropediatrics

Volumn 39, Issue 2, 2008, Pages 119-122

  Haliloglu, G ^a   Jobard, F ^b   Oguz, K K ^a   Anlar, B ^a   Akalan, N ^a   Coskun, T ^a   Sass, J O ^c   Fischer, J ^b   Topcu, M ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b DIF   (France)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Brain tumors; Chirality; L 2 hydroxyglutaric aciduria; Neuroimaging features; Organic acids

Indexed keywords

GENE PRODUCT; LEVO 2 HYDROXYGLUARATE DEHYDROGENASE;

ACIDURIA; ARTICLE; BRAIN TUMOR; CASE REPORT; CHILD; COHORT ANALYSIS; DEATH; DISEASE COURSE; EXON; GENE MUTATION; GLIOBLASTOMA; HOMOZYGOSITY; HUMAN; LEVO 2 HYDROXYGLUTARIC ACIDURIA; MALE; MEDULLOBLASTOMA; MISSENSE MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

ALCOHOL OXIDOREDUCTASES; AMINO ACID METABOLISM, INBORN ERRORS; BRAIN NEOPLASMS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GLUTARATES; HUMANS; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MUTATION, MISSENSE;

EID: 50649109180     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1081217     Document Type: Article

References (14)

1. Duran M, Kamerling JP, Bakker HD, Gennip AH Van, Wadman SK. L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis 1980; 3: 109-112
2. Hanefeld F, Kruse B, Bruhn H, Frahm J. In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia. Pediatr Res 1994; 35: 614-616
3. Hoffmann GF, Jakobs C, Holmes B et al. Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydraxyglutarlc aciduria. J Inherit Metab Dis 1995; 18: 189-193
4. Junqueira D, Brusque AM, Porciuncula LO et al. Effects of L-2-hydroxyglutaric acid on various parameters of the glutamatergic system in cerebral cortex of rats. Metab Brain Dis 2003; 18: 233-243
5. Latini A, Scussiato K, Rosa RB et al. Induction of oxidative stress by L-2-hydroxyglutaric acid in rat brain. J Neurosci Res 2003; 74: 103-110
6. Moroni I, Bugiani M, D'Incerti L et al. L-2- Hydroxyglutaric aciduria and brain malignant tumors. A predisposing condition? Neurology 2004; 62: 1882-1884
7. Ozisik PA, Akalan N, Palaoglu S, Topcu M. Medulloblastoma in a child with the metabolic disease L-2-hydroxyglutaric aciduria. Pediatr Neurosurg 2002; 37: 22-26
8. Rzem R, Veiga-da-Cunha M, Noel G et al. A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci 2004; 48: 16849-16854
9. Rzem R, Vincent MF, Schaftingen E Van, Veiga-da-Cunha M. L-2-Hydroxy-glutaric aciduria, a defect of metabolite repair. J Inherit Metab Dis 2007; 30: 681-689
10. Samuel SM, Yuen-ing C, Xiao-Meng A et al. Cell cycle related kinase: a novel candidate oncogene in human glioblastoma. J Natl Cancer Inst 2007; 99: 936-948
11. Topcu M, Aydin OF, Yalcinkaya C et al. L-2- Hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr 2005; 47: 1-7
12. Topcu M, Jobard F, Halliez S et al. L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22. 1; Hum: Mol Genet 2004; 13: 2803-2811
13. Knaap MS van Der, Valk J. Magnetic resonance of myelination and myelin disorders 3rd edn., Springer, Heidelberg, Berlin 2005; chap. 43: 334-337
14. Vilarinho L, Cardoso ML, Gaspar P et al. Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. Hum Mut 2005; 26: 395-396