title: L-2-hydroxyglutaric aciduria: report of four Turkish adult patients.
abstract: BACKGROUND
  l-2-Hydroxyglutaric aciduria is a rare progressive neurometabolic disorder of childhood inherited as an autosomal recessive trait. Urine organic-acid screening is necessary for its diagnosis. Although it is a disorder of childhood, recently adult cases have been reported.
  
  
  METHODS
  Here we report 4 adult patients in whom diagnoses were established in adulthood. These patients had some interesting features. First, their diagnoses were delayed until adulthood because of mild clinical symptoms. In such cases, the typical MRI findings are the best diagnostic clue for l-2-Hydroxyglutaric aciduria. Second, there was a correlation between the severity of the clinical course and the extent of MRI findings. The cerebral white-matter lesions were diffuse and confluent on the MRI of 3 of the 4 patients, who also experienced a rapidly progressive clinical decline. Third, there were different clinical presentations even within the same family.
  
  
  CONCLUSIONS
  For the evaluation of patients with symptoms referable to cerebellar, pyramidal, extrapyramidal, or cognitive impairment as well as seizures associated with subcortical white-matter and symmetrical dentate nuclei and basal ganglia involvement on MRI, urine organic acid analysis should be included in the evaluation, regardless of patient's age.
authors.affiliation: Hacettepe University Institute of Neurological Sciences and Psychiatry, Ankara, Turkey. hulyak@hacettepe.edu.tr
authors.forename: Hulya
authors.initials: H
authors.lastname: Karatas
authors.forename: Serap
authors.initials: S
authors.lastname: Saygi
authors.forename: Birgul
authors.initials: B
authors.lastname: Bastan
authors.forename: Amber
authors.initials: A
authors.lastname: Eker
authors.forename: Oguzhan
authors.initials: O
authors.lastname: Kursun
authors.forename: Yavuz
authors.initials: Y
authors.lastname: Ayhan
authors.forename: Abdurrahman
authors.initials: A
authors.lastname: Ciger
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D005971:Glutamates / Q000652:urine*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000473:pathology* / Q000652:urine; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D035781:Siblings; D014421:Turkey; D055815:Young Adult
chemical_list: D005971:Glutamates; C011859:hydroxyglutamic acid