Combined D-2- and L-2-Hydroxyglutaric Aciduria with Neonatal Onset Encephalopathy: A Third Biochemical Variant of 2-Hydroxyglutaric Aciduria?
- 1 April 2000
- journal article
- case report
- Published by Georg Thieme Verlag KG in Neuropediatrics
- Vol. 31 (3) , 137-140
- https://doi.org/10.1055/s-2000-7497
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.Keywords
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