A successfully treated adult patient with L-2-hydroxyglutaric aciduria

Neurology

Volumn 70, Issue 13 PART 1, 2008, Pages 1051-1052

  Samuraki, M ^a   Komai, K ^a   Hasegawa, Y ^b   Kimura, M ^b   Yamaguchi, S ^b   Terada, N ^c   Yamada, M ^a  

^a KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^b SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

^c KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; FLAVINE ADENINE NUCLEOTIDE;

ACIDURIA; ADULT; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID; CLINICAL FEATURE; FEMALE; HOSPITAL ADMISSION; HUMAN; INTELLIGENCE QUOTIENT; L 2 HYDROXYGLUTARIC ACIDURIA; LABORATORY TEST; METABOLIC DISORDER; NEUROLOGIC DISEASE; PRIORITY JOURNAL;

EID: 41349084192     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000287141.90944.95     Document Type: Article

References (7)

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;32:66-71.
3. 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.
4. 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.
5. Brandt NJ, Gregersen N, Christensen E, Gron IH, Rasmussen K. Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue. J Pediatr 1979;94:669-673.
6. Rzem R, Van Schaftingen E, Veiga-da-Cunha M. The gene mutated in L-2-hydroxyglutaric aciduria encodes L-2-hydroxyglutarate dehydrogenase. Biochimie 2006;88:113-116.
7. Seccombe DW, James L, Booth F. L-Carnitine treatment in glutaric aciduria type I. Neurology 1986;36:264-267.