Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management

被引:46
作者
Monavari, AA [1 ]
Naughten, ER [1 ]
机构
[1] Childrens Hosp, Natl Ctr Inherited Metab Disorders, Dublin 1, Ireland
关键词
glutaric aciduria; dyskinetic cerebral palsy; dietary management;
D O I
10.1136/adc.82.1.67
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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.
引用
收藏
页码:67 / 70
页数:4
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