L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults

Clin Neurol Neurosurg. 2013 Jun;115(6):765-6. doi: 10.1016/j.clineuro.2012.06.040. Epub 2012 Jul 25.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alcohol Oxidoreductases / deficiency
  • Alcohol Oxidoreductases / genetics
  • Brain / pathology
  • Brain Diseases, Metabolic, Inborn / complications*
  • Brain Diseases, Metabolic, Inborn / genetics
  • Humans
  • Leukoencephalopathies / etiology*
  • Leukoencephalopathies / genetics
  • Leukoencephalopathies / pathology
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics

Substances

  • Alcohol Oxidoreductases
  • D2HGDH protein, human

Supplementary concepts

  • 2-Hydroxyglutaricaciduria