L-2-hydroxyglutaric aciduria: Report of four Turkish adult patients

Neurologist

Volumn 16, Issue 1, 2010, Pages 44-46

  Karatas, Hulya ^a   Saygi, Serap ^a   Bastan, Birgul ^a   Eker, Amber ^a   Kursun, Oguzhan ^a   Ayhan, Yavuz ^a   Ciger, Abdurrahman ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Adult cases; Epilepsy; L 2 hydroxy glutaric aciduria; MRI findings

Indexed keywords

CARBAMAZEPINE; CARNITINE; PHENOBARBITAL;

ACIDURIA; ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIET RESTRICTION; ELECTROENCEPHALOGRAM; ELECTROENCEPHALOGRAPHY; EVOKED SOMATOSENSORY RESPONSE; EVOKED VISUAL RESPONSE; FEMALE; HUMAN; LABORATORY TEST; LEVO 2 HYDROXYGLUTAMIC ACIDURIA; MALE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEIZURE;

ADULT; BRAIN; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; FEMALE; GLUTAMATES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; METABOLISM, INBORN ERRORS; NERVE FIBERS, MYELINATED; SIBLINGS; TURKEY; YOUNG ADULT;

EID: 75749132087     PISSN: 10747931     EISSN: None     Source Type: Journal    
DOI: 10.1097/NRL.0b013e31819f9556     Document Type: Article

References (18)

1. Duran M, Kamerling JP, Bakker HD, et al. L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis. 1980;3:109-112.
2. Barth PG, Hoffmann GF, Jaeken J, et al. L-hydoxyglutaric academia: a novel inherited neurometabolic disease. Ann Neurol. 1992;32:66-71.
3. Rzem R, Veiga-da-Cunha M, Noël 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 USA. 2004;101:16849-16854.
4. Topcu M, Jobard F, Halliez S, et al. L-2-hyroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22. 1. Hum Mol Genet. 2004;13:2803-2811.
5. D'Incerti L, Farina L, Moroni I, et al. L-2-Hydroxyglutaric aciduria: MRI in seven cases. Neuroradiology. 1998;40:727-733.
6. Barth PG, Hoffmann GF, Jaeken J, 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;16:753-761.
7. Fujitake J, Ishikawa Y, Fujii H, et al. L-2-Hydroxyglutaric aciduria: two Japanese adult cases in one family. J Neurol. 1999;246:378-382.
8. Goffette SM, Duprez TP, Nassogne MC, et al. L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters. Eur J Neurol. 2006;13:499-504.
9. Larnaout A, Hentati F, Belal S, et al. Clinical and pathological study of 3 Tuinisian siblings with L-2-OHG. Acta Neuropathol (Berl). 1994;88:367-370.
10. Vilarinho L, Cardoso ML, Gaspar P, et al. Novel L'HGDH mutations in 21 patients with L-2-hydorxyglutaric aciduria of Portuguese origin. Hum Mutat. 2005;26:395-396.
11. Warmuth-Metz M, Becker G, Bendszus M, et al. Spinal canal stenosis in L-2 hydroxyglutaric aciduria. Arch Neurol. 2000;57:1635-1637.
12. Samuraki M, Komai K, Hasegawa Y, et al. A successfully treated adult patient with L-2-Hydroxyglutaric aciduria. Neurology. 2008;70:1051-1052.
13. Periasamy V, Rudwan M, Yadav G, et al. Epilepsy in a young adult caused by L-2-hydroxyglutaric aciduria: a case report. Med Princ Pract. 2008;17:258-261.
14. Moroni I, D Incerti L, Farina L, et al. Clinical, biochemical and neurological findings in L-2-hydroxyglutaric aciduria. Neurol Sci. 2000;21:103-108.
15. Van Der Knaap MS, Barth PG, Stroink H, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol. 1995;37:324-334.
16. Van Der Knaap MS, Valk J. Alexander's Disease. In: Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 2nd edn. New York, NY: Springer, Berlin Heidelberg; 1995;259:-264.
17. Topcu M, Erdem G, Saatci I, et al. Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of 3 cases in comparison with Canavan disease. J Child Neurol. 1996;11:373-377.
18. Rzem R, Vincentg MF, Van Schaftingen E, et al. L-2-Hydroxyglutaric aciduria, a defect of metabolite repair. J Inherit Metab Dis. 2007;30:681-689.