L-2 hydroxyglutaric aciduria presenting with anxiety symptoms

BMJ Case Rep. 2013 Jun 6:2013:bcr2013009512. doi: 10.1136/bcr-2013-009512.


l-2 Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid metabolism. Cerebellar and pyramidal signs with progressive neurological syndromes, mental deterioration, tremors, seizures, epilepsy and rarely macrocephaly are clinical findings of the disease. The diagnosis depends on increased levels of l-2 hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. Brain MRI shows peripheral white matter abnormalities in cerebral hemispheres, bilateral symmetrically abnormal signal intensity in basal ganglia and dentate nuclei. In this case report, we present a 13-year-old patient who presented with tremors and anxiety symptoms and was diagnosed as l-2 hydroxyglutaric aciduria after consultation with the child neurology department. We present a patient suffering from psychiatric symptoms with a metabolic disorder.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anxiety / etiology*
  • Brain Diseases, Metabolic, Inborn / complications
  • Brain Diseases, Metabolic, Inborn / diagnosis
  • Brain Diseases, Metabolic, Inborn / drug therapy
  • Brain Diseases, Metabolic, Inborn / psychology*
  • Carnitine / therapeutic use
  • Diagnosis, Differential
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Riboflavin / therapeutic use
  • Treatment Outcome


  • Carnitine
  • Riboflavin

Supplementary concepts

  • 2-Hydroxyglutaricaciduria