title: Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management.
abstract: OBJECTIVE
  To study retrospectively the effects of treatment and the clinical outcome in 12 patients with glutaric aciduria type 1; and to compare the outcome in 6 patients diagnosed as a result of family screening with 6 patients who were diagnosed late after symptomatic presentation.
  
  
  METHODS
  The National Centre for Inherited Metabolic Disorders, The Children's Hospital, Dublin, Ireland.
  
  
  RESULTS
  Four of the 6 children detected on screening are developmentally normal, 1 died, and the remaining 1 has mild mental handicap. All 6 of the late diagnosed symptomatic group suffered dyskinetic cerebral palsy and 5 have died.
  
  
  CONCLUSIONS
  Experience of 50 patient treatment years has shown that early intensive management can alter the natural history of this rare disorder.
authors.affiliation: National Centre for Inherited Metabolic Disorders, The Children's Hospital, Temple Street, Dublin 1, Ireland.
authors.forename: A A
authors.initials: AA
authors.lastname: Monavari
authors.forename: E R
authors.initials: ER
authors.lastname: Naughten
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000652:urine; D002547:Cerebral Palsy / Q000175:diagnosis / Q000178:diet therapy* / Q000517:prevention & control; D002648:Child; D005192:Family Health; D005977:Glutarates / Q000652:urine*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008659:Metabolic Diseases / Q000652:urine*; D012189:Retrospective Studies; D016896:Treatment Outcome
chemical_list: D015415:Biomarkers; D005977:Glutarates; C035736:glutaric acid