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Case Reports
. 2000 Jun;31(3):137-40.
doi: 10.1055/s-2000-7497.

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

A C Muntau  1 , W Röschinger, A Merkenschlager, M S van der Knaap, C Jakobs, M Duran, G F Hoffmann, A A Roscher
Affiliations
Case Reports

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

A C Muntau et al. Neuropediatrics. 2000 Jun.

Abstract

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.

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