L-2-Hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration

Journal of Neurology

Volumn 257, Issue 1, 2010, Pages 146-148

  Saidha, Shiv ^a   Murphy, Sinead ^a   McCarthy, Peter ^a   Mayne, Philip D ^b   Hennessy, Michael ^a  

^a UNIVERSITY HOSPITAL GALWAY   (Ireland)

^b CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; CARBAMAZEPINE; CARNITINE; LYSINE; RIBOFLAVIN;

2 HYDROXYGLUTARIC ACIDURIA; ACIDURIA; ADL DISABILITY; ADULT; CASE REPORT; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID ANALYSIS; DELTA RHYTHM; DYSARTHRIA; DYSMETRIA; ELECTROENCEPHALOGRAPHY; HUMAN; HYPERREFLEXIA; LEARNING DISORDER; LETTER; LEUKOENCEPHALOPATHY; MALE; MEMORY DISORDER; METABOLIC DISORDER; MUSCLE HYPERTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SLURRED SPEECH; TONIC CLONIC SEIZURE;

ADULT; ATAXIA; BRAIN; DISEASE PROGRESSION; EPILEPSY; GLUTARATES; HUMANS; LYSINE; MALE; METABOLISM, INBORN ERRORS; RARE DISEASES; SEIZURES;

EID: 74849136011     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-009-5319-8     Document Type: Letter

References (18)

1. M Topçu OF Aydin C Yalçinkaya, et al. 2005 l-2-Hydroxyglutaric aciduria: a report of 29 patients Turk J Pediatr 47 1 7 15884621
2. J Fujitake Y Ishikawa H Fujii, et al. 1999 l-2-Hydroxyglutaric aciduria: two Japanese adult cases in one family J Neurol 246 378 382 10.1007/ s004150050367 1:STN:280:DyaK1MzisFCmtQ%3D%3D 10399870 (Pubitemid 29261428)
3. G O'Connor M King G Salomons C Jakobs O Hardiman 2009 A novel mutation as a cause of l-2-hydroxyglutaric aciduria J Neurol 256 672 673 10.1007/s00415-009-0107-z 19444541
4. M Samuraki K Komai Y Hasegawa 2008 A successfully treated adult patient with l-2-hydroxyglutaric aciduria Neurology 70 1051 1052 10.1212/01.wnl. 0000287141.90944.95 1:STN:280:DC%2BD1c3gtl2qsA%3D%3D 18362286
5. W Owens M Okun 2004 Dystonia, tremor and parkinsonism in a 54-year-old man with 2-hydroxyglutaric aciduria J Neurol Neurosurg Psychiatry 75 1362 1363 10.1136/jnnp.2003.033571 1:STN:280:DC%2BD2cvgvFWmtQ%3D%3D 15314137 (Pubitemid 39141355)
6. S Goffette T Duprez MC Nassogne MF Vincent C Jakobs C Sindic 2006 l-2-Hydroxyglutaric aciduria: clinical, genetic and brain MRI characteristics in two adult sisters Eur J Neurol 13 499 504 10.1111/j.1468-1331.2006.01282.x 1:STN:280:DC%2BD283ptlarsg%3D%3D 16722976 (Pubitemid 43823366)
7. C Clerc M Bataillard P Richard P Divry J Kraehenbuhl L Rumbach 2000 An adult form of l-2-hydroxyglutaric aciduria revealed by tremor Eur Neurol 43 119 120 10.1159/000008149 1:STN:280:DC%2BD3c7ltlCmsg%3D%3D 10686474
8. V Periasamy M Rudwan G Yadav R Khan 2008 Epilepsy in a young adult caused by l-2-hydroxygluraic aciduria: a case report Med Princ Pract 17 258 261 10.1159/000117804 18408399
9. C Barbot I Fineza L Diogo, et al. 1997 l-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients Brain Dev 19 268 273 10.1016/S0387-7604(97)00574-3 1:STN:280:DyaK2szjtFWntw%3D%3D 9187477 (Pubitemid 27236852)
10. M Duran JP Kamerling HD Bakker AH van Genni p SK Wadman 1980 l-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis 3 109 112 10.1007/BF02312543 1:STN:280:DyaL3M3hvFerug%3D%3D 6787330
11. PG Barth GF Hoffmann JJ Jaeken, et al. 1992 l-2-Hydroxyglutaric acidemia: a novel inherited neurometabolic disease Ann Neurol 32 66 67 10.1002/ana.410320111 1:STN:280:DyaK38zlt1ahug%3D%3D 1642474
12. PG Barth GF Hoffmann JJ Jaeken, et al. 1993 l-2-Hydroxyglutaric acidemia: clinical and biochemical findings in 12 patients and preliminary report on l-2-hydroxyacid dehydrogenase J Inherit Metab Dis 16 753 761 10.1007/BF00711907 1:STN:280:DyaK2c%2FhslGqtA%3D%3D 8412018
13. Y Shafeghati G Vakili A Entezari 2006 l-2-Hydroxyglutaric aciduria: a report of six cases and review of the literature Arch Iran Med 9 165 169 16649364
14. M Warmuth-Metz G Becker M Bendszus L Solymosi 2000 Spinal canal stenosis in l-2-hydroxyglutaric aciduria Arch Neurol 57 1635 1637 10.1001/archneur.57.11. 1635 1:STN:280:DC%2BD3M%2FjsVKhsw%3D%3D 11074797
15. L D'Incerti L Farina I Moroni G Uziel M Savoiardo 1998 l-2-Hydroxyglutaric acid-uria: MRI in seven cases Neuroradiology 40 727 733 10.1007/s002340050673 9860123 (Pubitemid 28526107)
16. M Topcu G Erdem I Saatçi, et al. 1996 Clinical and magnetic resonance imaging features of l-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease J Child Neurol 11 373 377 10.1177/088307389601100505 1:STN:280:DyaK2s%2FjtFKqug%3D%3D 8877604
17. I Moroni L D'Incerti L Farina M Rimoldi G Uziel 2000 Clinical, biochemical and neuroradiological findings in l-2-hydroxyglutaric aciduria Neurol Sci 21 103 108 10.1007/s100720070104 1:STN:280:DC%2BD3M%2FisFejug%3D%3D 10938189
18. K Yilmaz 2008 Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria Eur J Paediatr Neurol 13 57 60 10.1016/j.ejpn.2008.01.003 18343698