title: Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease.
abstract: We report three cases of L-2-hydroxyglutaric acidemia and three cases of Canavan disease. The L-2-hydroxyglutaric acidemia cases are the first biochemically proven Turkish cases. Magnetic resonance imaging findings in the cases and similarities between the two diseases are emphasized. Both diseases are characterized by predominant subcortical white-matter involvement and dentate nuclei lesions with variable basal ganglia involvement. Canavan disease differs from L-2-hydroxyglutaric acidemia by the presence of typical brainstem involvement.
authors.affiliation: Pediatric Neurology Unit, Hacettepe University School of Medicine, Ankara, Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Topçu
authors.forename: G
authors.initials: G
authors.lastname: Erdem
authors.forename: I
authors.initials: I
authors.lastname: Saatçi
authors.forename: G
authors.initials: G
authors.lastname: Aktan
authors.forename: A
authors.initials: A
authors.lastname: Simşek
authors.forename: Y
authors.initials: Y
authors.lastname: Renda
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: C
authors.initials: C
authors.lastname: Jacobs
mesh_terms: D017825:Canavan Disease / Q000473:pathology*; D002529:Cerebellar Nuclei / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005977:Glutarates / Q000378:metabolism*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008659:Metabolic Diseases / Q000473:pathology*; D009410:Nerve Degeneration / Q000502:physiology*
chemical_list: D005977:Glutarates; C035736:glutaric acid