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Neuropediatrics 2000; 31(3): 137-140
DOI: 10.1055/s-2000-7497
Original Article

Georg Thieme Verlag Stuttgart · New York

Combined D-2- and L-2-Hydroxyglutaric Aciduria with Neonatal Onset Encephalopathy: A Third Biochemical Variant of 2-Hydroxyglutaric Aciduria?

Ania C. Muntau1 , W. Röschinger1 , A. Merkenschlager2 , M. S. van der Knaap3 , C. Jakobs4 , M. Duran5 , G. F. Hoffmann6 , A. A. Roscher1
  • 1 Department of Metabolic Diseases, Children's Hospital, Ludwig-Maximilians-University of Munich, Germany
  • 2 Department of Neuropediatrics, Children's Hospital, Ludwig-Maximilians-University of Munich, Germany
  • 3 Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands
  • 4 Metabolic Unit of the Department of Clinical Chemistry, Free University Hospital, Amsterdam, The Netherlands
  • 5 University Children's Hospital, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands
  • 6 Department of Neuropediatrics and Metabolic Diseases, University Children's Hospital of Heidelberg, Germany
Further Information

Publication History

Publication Date:
31 December 2000 (online)

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Two distinct disorders with elevated urinary excretion of 2-hydroxyglutaric acid are known: L-2-hydroxyglutaric aciduria and D-2-hydroxyglutaric aciduria. This paper presents clinical and biochemical studies in three patients and unsuccessful prenatal diagnosis in one case with combined D-2- and L-2-hydroxyglutaric aciduria. We suggest that these patients, who displayed a phenotype of neonatal onset metabolic encephalopathy, present a third variant of 2-hydroxyglutaric aciduria. Prenatal diagnosis is not reliable in this disorder.

Key words

Inherited metabolic disorder - Organic aciduria - Neonatal onset encephalopathy - Infantile epilepsy - Prenatal diagnosis - Hydroxyglutaric aciduria

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M. D. Ania C. Muntau

Department of Metabolic Diseases Kinderklinik und Kinderpoliklinik Dr. von Haunersches Kinderspital der Ludwig-Maximilians-Universität München

Lindwurmstr. 4

80337 München

Germany

Email: E-mail: Ania.Muntau@kk-i.med.uni-muenchen.de

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