title: 2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature.
abstract: We report on an infant with D-2-hydroxyglutaric aciduria, who presented with severe seizures and developmental delay. We reviewed the literature for 2-hydroxyglutaric aciduria and found six other patients with the D-isomer and 24 patients with the L-isomer. Although the clinical spectrum of this inborn error of metabolism is variable, the clinical course of the D-form seems to be more severe than this of the L-form.
authors.affiliation: Department of Child Neurology, University Hospital of Nijmegen, The Netherlands.
authors.forename: Y
authors.initials: Y
authors.lastname: Geerts
authors.forename: W O
authors.initials: WO
authors.lastname: Renier
authors.forename: J
authors.initials: J
authors.lastname: Bakkeren
authors.forename: J
authors.initials: J
authors.lastname: de Jong
mesh_terms: D004827:Epilepsy / Q000175:diagnosis / Q000209:etiology; D005977:Glutarates / Q000737:chemistry / Q000652:urine*; D006801:Humans; D007223:Infant; D007536:Isomerism; D008297:Male; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000209:etiology; D000608:Renal Aminoacidurias / Q000150:complications / Q000175:diagnosis* / Q000652:urine
chemical_list: D005977:Glutarates; C019417:alpha-hydroxyglutarate