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.

中文翻译：

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曼尼托巴省1型戊二酸尿症（GA1）新生儿筛查项目的结果：1980–2020年

戊二酸尿症1型（GA1）是一种严重的遗传性神经代谢疾病，在实施新生儿筛查（NBS）程序并迅速开始进行有针对性的对症治疗之前，其临床结局得到了改善。我们报告了我们在GA1的诊断和管理方面40年经验的成果，该经验已经得到改善，但仍然不是最理想的。