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

J Neurol Sci. 1996 Nov;143(1-2):166-9. doi: 10.1016/s0022-510x(96)00179-7.

Abstract

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Epilepsy / diagnosis
  • Epilepsy / etiology
  • Glutarates / chemistry
  • Glutarates / urine*
  • Humans
  • Infant
  • Isomerism
  • Male
  • Psychomotor Disorders / diagnosis
  • Psychomotor Disorders / etiology
  • Renal Aminoacidurias / complications
  • Renal Aminoacidurias / diagnosis*
  • Renal Aminoacidurias / urine

Substances

  • Glutarates
  • alpha-hydroxyglutarate