%0 Journal Article %1 Monavari2000 %A Monavari, A. A. %A Naughten, E. R. %D 2000 %J Arch Dis Child %K Adolescent; Adult; Biological Markers; Cerebral Palsy; Child; Family Health; Glutarates; Humans; Magnetic Resonance Imaging; Metabolic Diseases; Retrospective Studies; Treatment Outcome %N 1 %P 67--70 %T Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management. %V 82 %X AIMS: 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. SETTING: The National Centre for Inherited Metabolic Disorders, The Children's Hospital, Dublin, Ireland. RESULT: 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. CONCLUSION: Experience of 50 patient treatment years has shown that early intensive management can alter the natural history of this rare disorder.

@article{Monavari2000, abstract = {AIMS: 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. SETTING: The National Centre for Inherited Metabolic Disorders, The Children's Hospital, Dublin, Ireland. RESULT: 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. CONCLUSION: Experience of 50 patient treatment years has shown that early intensive management can alter the natural history of this rare disorder.}, added-at = {2014-07-19T20:48:36.000+0200}, author = {Monavari, A. A. and Naughten, E. R.}, biburl = {https://www.bibsonomy.org/bibtex/2e22cb432fb9c8e5c95f759d2cdf0493b/ar0berts}, groups = {public}, interhash = {9abd384a14133cebd30d5b8cdf575f71}, intrahash = {e22cb432fb9c8e5c95f759d2cdf0493b}, journal = {Arch Dis Child}, keywords = {Adolescent; Adult; Biological Markers; Cerebral Palsy; Child; Family Health; Glutarates; Humans; Magnetic Resonance Imaging; Metabolic Diseases; Retrospective Studies; Treatment Outcome}, month = Jan, number = 1, pages = {67--70}, pmid = {10630918}, timestamp = {2014-07-19T20:48:36.000+0200}, title = {Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management.}, username = {ar0berts}, volume = 82, year = 2000 }