BMJ Case Reports 2013; doi:10.1136/bcr-2013-009512

l-2 Hydroxyglutaric aciduria presenting with anxiety symptoms

  1. Kutluhan Yilmaz3
  1. 1Department of Child and Adolescent Psychiatry, Gaziantep University, Gaziantep, Turkey
  2. 2Department of Pediatric Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey
  3. 3Department of Pediatric Neurology, Faculty of Medicine, Istanbul Medeniyet University, Istanbul, Turkey
  1. Correspondence to Dr Sedat Işıkay, dr.sedatisikay{at}


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.

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