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Neuropediatrics. 2000 Jun;31(3):137-40.

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

Author information

1
Department of Metabolic Diseases, Children's Hospital, Ludwig-Maximilians-University of Munich, Germany. Ania.Muntau@kk-i.med.uni-muenchen.de

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.

PMID:
10963100
DOI:
10.1055/s-2000-7497
[Indexed for MEDLINE]

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