L-2-hydroxyglutaric aciduria: Clinical, neuroimaging, and neuropathological findings

Archives of Neurology

Volumn 62, Issue 4, 2005, Pages 666-670

  Seijo Martinez, Manuel ^a,f   Navarro, Carmen ^b   Castro Del Rio, Maria ^a   Vila, Oscar ^c   Puig, Miguel ^a   Ribes, Antonia ^e   Butron, Mercedes ^d  

^a Complexo Hospitalario de Pontevedra ^*  (Spain)

^b HOSPITAL DO MEIXOEIRO   (Spain)

^c Instituto Gallego Medicina Tecnica   (Spain)

^d HOSPITAL XERAL CÍES   (Spain)

^e Institut de Bioquimica Clinica Barcelona   (Spain)

^f Neurology Service   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID;

2 HYDROXYGLUTARIC ACIDURIA; ACIDURIA; ADOLESCENT; ARTICLE; ASTROCYTE; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; BLOOD LEVEL; CASE REPORT; CELL PROLIFERATION; CEREBROSPINAL FLUID ANALYSIS; CHOREA; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DEATH; DENTATE NUCLEUS; DIAGNOSTIC IMAGING; DYSTONIA; EPILEPSY; GLOBUS PALLIDUS; HISTOPATHOLOGY; HUMAN; IMAGE ANALYSIS; LEUKOENCEPHALOPATHY; MALE; MESENTERIC ARTERY OCCLUSION; NEUROIMAGING; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; PUTAMEN; PYRAMIDAL SIGN; SPAIN; SYMPTOM; THALAMUS; THROMBOSIS; URINALYSIS; WHITE MATTER;

ADOLESCENT; ATROPHY; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; EPILEPSY; FATAL OUTCOME; FOLIC ACID; GENES, RECESSIVE; GLUTARATES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MESENTERIC VASCULAR OCCLUSION; MESENTERIC VEINS; NERVE FIBERS, MYELINATED; SPAIN;

EID: 16844378167     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.62.4.666     Document Type: Article

References (17)

1. Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK. 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-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol. 1992;32:66-67.
3. Warmuth-Metz M, Becker G, Bendszus M, Solymosi L. Spinal canal stenosis in L-2-hydroxyglutaric aciduria. Arch Neurol. 2000:57:1635-1637.
4. 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.
5. D'Incerti L, Farina L, Moroni I, Uziel G, Savoiardo M. L-2-Hydroxyglutaric aciduria: MRI in seven cases. Neuroradiology. 1998;40:727-733.
6. Moroni I, D'Incerti L, Farina L, Rimoldi M, Uziel G. Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci. 2000;21:103-108.
7. Van der Knaap MS, Valk J, Barth PG, et al. Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis. Neuroradiology. 1995;37:679-686.
8. Topcu M, Erdem G, Saatçi I, 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;11:373-377.
9. Struys EA, Verhoeven NM, Roos B, Jakobs C. 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. 2003;49:1133-1138.
10. Larnaout A, Hentati F, Belal S, Ben Hamida C, Kaabachi N, Ben Hamida M. Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria. Acta Neuropathol (Berl). 1994;88:367-370.
11. Chen E, Nyhan WL, Jakobs C, et al. L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis. 1996;19:335-343.
12. Wilcken B, Pitt J, Heath D, Walsh P, Wilson G, Buchanan N. L-2-hydroxyglutaric aciduria: three Australian cases. J Inherit Metab Dis. 1993;16:501-504.
13. Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D. Neurological manifestations of organic acid disorders. Eur J Pediatr. 1994;153(suppl 1):S94-S100.
14. Kamoun P, Richard V, Rabier D, Saudubray JM. Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondria. J Inherit Metab Dis. 2002;25:1-6.
15. Latini A, Scussiato K, Borba Rosa R, et al. Induction of oxidative stress by L-2-hydroxyglutaric acid in rat brain. J Neurosci Res. 2003;74:103-110.
16. da Silva CG, Bueno AR, Schuck PF, et al. L-2-hydroxyglutaric acid inhibits mitochondrial creatine kinase activity from cerebellum of developing rats. Int J Dev Neurosci. 2003;21:217-224.
17. Oguzkurt P, Senocak ME, Ciftci AO, Tanyel FC, Buyukpamukcu N. Mesenteric vascular occlusion resulting in intestinal necrosis in children. J Pediatr Surg. 2000;35:1161-1164.