2-Hydroxyglutaric aciduria: a case report on an infant with the d-isomeric form with review of the literature

We report on an infant with d-2-hydroxyglutaric aciduria, who presented with severe seizures and developmental delay. We reviewed the literature for 2-hydroxyglutaric aciduria and found six other patients with the d-isomer and 24 patients with the l-isomer. Although the clinical spectrum of this inborn error of metabolism is variable, the clinical course of the d-form seems to be more severe than this of the l-form.