Measurement of D-2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D-2-hydroxyglutaric aciduria patients

Journal of Inherited Metabolic Disease

Volumn 32, Issue 2, 2009, Pages 264-268

  Wickenhagen, W V ^a   Salomons, G S ^a   Gibson, K M ^b   Jakobs, C ^a   Struys, E A ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARATE DEHYDROGENASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ACIDURIA; ARTICLE; CELL FREE SYSTEM; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; LIQUID CHROMATOGRAPHY; LYMPHOBLAST; QUANTITATIVE ANALYSIS; TANDEM MASS SPECTROMETRY;

ALCOHOL OXIDOREDUCTASES; ALGORITHMS; AMINO ACID METABOLISM, INBORN ERRORS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FIBROBLASTS; GLUTARATES; HALF-LIFE; HUMANS; LYMPHOCYTES; MASS SPECTROMETRY; STEREOISOMERISM;

EID: 64449088033     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1104-1     Document Type: Article

References (7)

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2. Gibson KM, ten Brink HJ, Schor DS, et al (1993) Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: Application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res 34: 277-280. doi: 10.1203/ 00006450-199309000-00007.
3. Misra VK, Struys EA, O'Brien W, et al (2005) Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria monozygotic twins. Mol Genet Metab 86: 200-205. doi: 10.1016/j.ymgme.2005.06.005.
4. Struys EA, Salomons GS, Achouri Y (2005a) Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet 76: 358-360. doi: 10.1086/427890.
5. Struys EA, Korman SH, Salomons GS, et al (2005b) Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. Ann Neurol 58: 626-630. doi: 10.1002/ana.20559.
6. Van der Knaap MS, Jakobs C, Hoffmann GF, et al (1999a) D-2-hydroxyglutaric aciduria: Further clinical delineation. J Inherit Metab Dis 22: 404-413. doi: 10.1023/A:1005548005393.
7. Van der Knaap MS, Jakobs C, Hoffmann GF, et al (1999b) D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity? Ann Neurol 45: 111-119. doi: 10.1002/ 1531-8249(199901)45:1<111::AID-ART17>3.0.CO;2-N.