Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: A third biochemical variant of 2-hydroxyglutaric aciduria?

Ania C. Muntau*, W. Röschinger, A. Merkenschlager, M. S. Van Der Knaap, C. Jakobs, M. Duran, G. F. Hoffmann, A. A. Roscher

*Corresponding author for this work

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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.

Original languageEnglish
Pages (from-to)137-140
Number of pages4
Issue number3
Publication statusPublished - Jun 2000

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