title: L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration.
authors.forename: Shiv
authors.initials: S
authors.lastname: Saidha
authors.forename: Sinead
authors.initials: S
authors.lastname: Murphy
authors.forename: Peter
authors.initials: P
authors.lastname: McCarthy
authors.forename: Philip D
authors.initials: PD
authors.lastname: Mayne
authors.forename: Michael
authors.initials: M
authors.lastname: Hennessy
mesh_terms: D000328:Adult; D001259:Ataxia / Q000175:diagnosis / Q000188:drug therapy / Q000652:urine; D001921:Brain / Q000473:pathology; D018450:Disease Progression; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000652:urine; D005977:Glutarates / Q000652:urine*; D006801:Humans; D008239:Lysine / Q000378:metabolism; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy* / Q000473:pathology / Q000652:urine; D035583:Rare Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000652:urine; D012640:Seizures / Q000175:diagnosis / Q000188:drug therapy / Q000652:urine
chemical_list: D005977:Glutarates; C019417:alpha-hydroxyglutarate; D008239:Lysine