曼尼托巴省1980 - 2020年1型戊二酸血症（GA1）新生儿筛查项目的结果
Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980-2020.
作者信息
Mhanni A, Aylward N, Boy N, Martin B, Sharma A, Rockman-Greenberg C
机构信息
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Germany.
出版信息
Mol Genet Metab Rep. 2020 Nov 25;25:100666. doi: 10.1016/j.ymgmr.2020.100666. eCollection 2020 Dec.
Abstract
Glutaric aciduria type 1 (GA1) is a severe inherited neurometabolic disorder whose clinical outcome has improved after implementation of newborn screening (NBS) programs and prompt beginning of guideline-directed presymptomatic metabolic treatment. We report the outcome of our 40-year experience with the diagnosis and management of GA1 which has improved but remains suboptimal.
摘要
1型戊二酸血症（GA1）是一种严重的遗传性神经代谢疾病，自从实施新生儿筛查（NBS）计划并迅速开始进行循证无症状代谢治疗后，其临床预后有所改善。我们报告了我们40年来对GA1的诊断和管理经验，结果虽有改善，但仍不尽人意。
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