Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

Annals of Neurology

Volumn 58, Issue 4, 2005, Pages 626-630

  Struys, Eduard A ^a   Korman, Stanley H ^b   Salomons, Gajja S ^a   Darmin, Patricia S ^a   Achouri, Younes ^c   Van Schaftingen, Emile ^c   Verhoeven, Nanda M ^a   Jakobs, Cornelis ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c DE DUVE INSTITUTE   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; AMINO ACID; ASPARAGINE; ASPARTIC ACID; CARBOXYLIC ACID; CYCLOHEXIMIDE; DNA; MESSENGER RNA; MUTANT PROTEIN;

ACIDURIA; ARTICLE; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; D 2 HYDROXYGLUTARATE DEHYDROGENASE GENE; ENZYME ACTIVITY; FEMALE; GENE; HUMAN; MALE; MISSENSE MUTATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALESTINE; PEDIGREE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ALCOHOL OXIDOREDUCTASES; AMINO ACID METABOLISM, INBORN ERRORS; DNA, RECOMBINANT; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUTATION; PHENOTYPE;

EID: 25444454298     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20559     Document Type: Article

References (8)

1. Struys EA, Salomons GS, Achouri Y, et al. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet 2005;76:358-360.
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3. van der Knaap MS, Jakobs C, Hoffmann GF, et al. D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol 1999:45:111-119.
4. van der Knaap MS, Jakobs C, Hoffmann GF, et al. D-2-Hydroxyglutaric aciduria: further clinical delineation. J Inherit Metab Dis 1999;22:404-413.
5. Korman SH, Salomons GS, Gutman A, et al. D-2-Hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders? Neuropediatrics 2004;35:151-156.
6. Achouri Y, Noël G, Vertommen D, et al. Identification of a dehydrogenase acting on D-2-hydroxyglutarate. Biochem J 2004;381:35-42
7. Junqueira D, Brusque AM, Porciuncula LO, et al. In vitro effects of D-2-hydroxyglutaric acid on glutamate binding, uptake and release in cerebral cortex of rats. J Neurol Sci 2004;217:189-194.
8. Kölker S, Pawlak V, Ahlemeyer B, et al. NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in D-2-hydroxyglutaric aciduria. Eur J Neurosci 2002;16:21-28.