Archives of disease in childhood · 2000
Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Monavari A A, Naughten E R
Аннотация
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.
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.