Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria

American Journal of Human Genetics

Volumn 76, Issue 2, 2005, Pages 358-360

  Struys, Eduard A ^a   Salomons, Gajja S ^a   Achouri, Younes ^b   Van Schaftingen, Emile ^b   Grosso, Salvatore ^c   Craigen, William J ^d   Verhoeven, Nanda M ^a   Jakobs, Cornelis ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b DE DUVE INSTITUTE   (Belgium)

^c UNIVERSITY OF SIENA   (Italy)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; COMPLEMENTARY DNA; DEXTRO 2 HYDROXYGLUTARATE DEHYDROGENASE; GENOMIC DNA; ISOLEUCINE; OXIDOREDUCTASE; SERINE; UNCLASSIFIED DRUG; VALINE;

ACIDURIA; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVITY; EXON; FEMALE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; INTRON; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; NULL ALLELE; PRIORITY JOURNAL;

EID: 12344330398     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/427890     Document Type: Article

References (6)

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2. Chalmers RA, Lawson AM, Watts RWE, Tavill AS, Kamerling JP, Hey E, Ogilve D (1980) D-2-hydroxyglutaric aciduria: case report and biochemical studies. J Inherit Metab Dis 3:11-15
3. Gibson KM, Craigen W, Herman GE, Jakobs C (1993) D-2-hydroxyglutaric acidemia in a newborn with neurological abnormalities: a new neurometabolic disorder. J Inherit Metab Dis 16:497-500
4. Rzem R, Veiga-da-Cunha M, Noël G, Gofette S, Nassogne M-C, Tabarki B, Schöller C, Marquardt T, Vikkula M, Van Schaftingen E (2004) A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci USA 101:16849-16854
5. Struys EA, Verhoeven NM, Roos B, Jakobs C (2003) Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and D/L-2-hydroxyglutaric aciduria. Clin Chem 49:1133-1138
6. van der Knaap MS, Jakobs C, Hoffmann GF, Nyhan WL, Renier WO, Smeitink JA, Catsman-Berrevoets CE, Hjalmarson O, Vallance H, Sugita K, Bowe CM, Herrin JT, Craigen WJ, Buist NR, Brookfield DS, Chalmers RA (1999) D-2-hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol 45:111-119