Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria

FEBS Letters

Volumn 557, Issue 1-3, 2004, Pages 115-120

  Struys, Eduard A ^a   Verhoeven, Nanda M ^a   Brunengraber, Henri ^b   Jakobs, Cornelis ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

2 Ketoglutarate; Citrate; Citric acid cycle; D 2 Hydroxyglutarate; D 2 Hydroxyglutaric aciduria; GC MS; Mass isotopomer analysis; Origin

Indexed keywords

2 OXOGLUTARIC ACID; CITRIC ACID; DEXTRO 2 HYDROXYGLUTARATE; GLUCOSE; GLUTAMIC ACID; GLUTARIC ACID DERIVATIVE; UNCLASSIFIED DRUG;

ACIDURIA; ARTICLE; CALCULATION; CELL CULTURE; CELL LEVEL; CELLULAR DISTRIBUTION; CITRIC ACID CYCLE; CONTROLLED STUDY; DEXTRO 2 HYDROXYGLUTARIC ACIDURIA; HUMAN; HUMAN CELL; INCUBATION TIME; LYMPHOBLAST; METABOLIC DISORDER; PRIORITY JOURNAL;

EID: 1642573175     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0014-5793(03)01459-5     Document Type: Article

References (25)

1. Gregersen N., Ingerslev J., Rasmussen K. Acta Paediatr. Scand. 66:1977;85-89.
2. Thompson J.A., Miles B.S., Fennessey P.V. Clin. Chem. 23:1977;1734-1738.
3. Chalmers R.A., Lawson A.M., Watts R.W.E., Tavill A.S., Kamerling J.P., et al. J. Inherit. Metab. Dis. 3:1980;11-15.
4. Duran M., Kamerling J.P., Bakker H.D., van Gennip A.H., Wadman S.K. J. Inherit. Metab. Dis. 3:1980;109-112.
5. van der Knaap M.S., Jakobs C., Hoffmann G.F., Nyhan W.L., Renier W.O., et al. Ann. Neurol. 45:1999;111-119.
6. van der Knaap M.S., Jakobs C., Hoffmann G.F., Duran M., Muntau A.C., et al. J. Inherit. Metab. Dis. 22:1999;404-413.
7. Muntau A.C., Röschinger W., Merkenschlager A., van der Knaap M.S., Jakobs C., Duran M., Hoffmann G.F., Roscher A.A. Neuropediatrics. 31:2000;137-140.
8. Watanabe H., Yamaguchi S., Saiki K., Shimizu N., Fukao T., Kondo N., Orii T. Clin. Chim. Acta. 238:1995;115-124.
9. Patton M.A., Krywawych R.M., Winter R.M., Benton D.P., Baraitser M. Am. J. Med. Genet. 26:1987;207-215.
10. Chalmers R.A., Lawson A.M., Borud O. Clin. Chim. Acta. 77:1977;117-124.
11. Kuhara T., Shinka T., Inoue Y., Matsumoto M., Yoshino M., Sakaguchi Y., Matsumoto I. Clin. Chim. Acta. 133:1983;133-140.
12. Kumps A., Duez P., Mardens Y. Clin. Chem. 48:2002;708-717.
13. Lee J.S., Yoon H.R., Coe C.J. J. Inherit. Metab. Dis. 24:2001;509-510.
14. Tubbs P.K., Greville G.D. Biochem. J. 81:1961;104-114.
15. Kaufman E.E., Nelson T., Fales H.M., Levin D.M. J. Biol. Chem. 263:1988;16872-16879.
16. Lindahl G., Lindstedt G., Lindstedt S. Arch. Biochem. Biophys. 119:1967;347-352.
17. Zhao G., Winkler M.E. J. Bacteriol. 178:1996;232-239.
18. Wegener W.S., Reeves H.C., Ajl S.J. Arch. Biochem. Biophys. 123:1968;62-65.
19. Kopchick J.J., Hartline R.A. J. Biol. Chem. 254:1979;3259-3263.
20. Brunengraber H., Kelleher J.K., Des Rosiers C. Annu. Rev. Nutr. 17:1997;559-596.
21. De Boer Th.J., Backer H.J. Org. Synth. Coll. 4:1963;250-253.
22. Bradford M.M. Anal. Biochem. 72:1976;248-254.
23. Gibson K.M., ten Brink H.J., Schor D.S.M., Kok R.M., Bootsma A.H., Hoffmann G.F., Jakobs C. Pediatr. Res. 34:1993;277-280.
24. Struys E.A., Verhoeven N.M., Roos B., Jakobs C. Clin. Chem. 49:2003;1133-1138.
25. Des Rosiers C., Fernandez C.A., David F., Brunengraber H. J. Biol. Chem. 269:1994;21179-21182.