L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients
R.J.A. Wanders
Departments of Pediatrics, University Hospital Amsterdam, Academic Medical Centre, Amsterdam, The Netherlands
Search for more papers by this authorH.P. Hartung
Department of Neurology, University of Würzburg, Germany
Search for more papers by this authorG.F. Hoffmann
Department of Neuropediatrics, University of Marburg, Germany
Search for more papers by this authorP.A.W. Mooijer
Department of Neuropediatrics, University of Marburg, Germany
Search for more papers by this authorG.A. Jansen
Department of Neuropediatrics, University of Marburg, Germany
Search for more papers by this authorJ.G.M. Huijmans
Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands
Search for more papers by this authorJ.B.C. de Klerk
Sophia Children's Hospital, Rotterdam, The Netherlands
Search for more papers by this authorH.J. ten Brink
Department of Clinical Chemistry, Free University Amsterdam, The Netherlands
Search for more papers by this authorC. Jakobs
Department of Clinical Chemistry, Free University Amsterdam, The Netherlands
Search for more papers by this authorM. Duran
University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands
Search for more papers by this authorR.J.A. Wanders
Departments of Pediatrics, University Hospital Amsterdam, Academic Medical Centre, Amsterdam, The Netherlands
Search for more papers by this authorH.P. Hartung
Department of Neurology, University of Würzburg, Germany
Search for more papers by this authorG.F. Hoffmann
Department of Neuropediatrics, University of Marburg, Germany
Search for more papers by this authorP.A.W. Mooijer
Department of Neuropediatrics, University of Marburg, Germany
Search for more papers by this authorG.A. Jansen
Department of Neuropediatrics, University of Marburg, Germany
Search for more papers by this authorJ.G.M. Huijmans
Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands
Search for more papers by this authorJ.B.C. de Klerk
Sophia Children's Hospital, Rotterdam, The Netherlands
Search for more papers by this authorH.J. ten Brink
Department of Clinical Chemistry, Free University Amsterdam, The Netherlands
Search for more papers by this authorC. Jakobs
Department of Clinical Chemistry, Free University Amsterdam, The Netherlands
Search for more papers by this authorM. Duran
University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands
Search for more papers by this author
REFERENCES
- 1Barth PG, Hoffmann GF, Jaeken J et al (1992) L-2-Hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol, 32: 66–71.
- 2Barth PG, Hoffmann GF, Jaeken J et al (1993) L-2-Hydroxyglutaric acidemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inher Metab Dis, 16: 753–761.
- 3Chen E, Nyhan WL, Jakobs C et al (1996) L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inher Metab Dis, 19: 335–343.
- 4Duran M, Kamerling JP, Bakker HD, vanGennip AH, Wadman SK (1980) L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?. J Inher Metab Dis, 3: 109–112.
- 5Jansen GA, Wanders RJA (1993) L-2-Hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric aciduria. Biochim Biophys Acta, 1225: 53–56.
