PERINATOLOGY AND PEDIATRIC. UKRAINE. 2018.1(73):125-132; doi 10.15574/PP.2018.73.125

Кирилова Л. Г., Юзва О. О., Мірошников О. О., Михайлець Л. П.
ДУ «Інститут педіатрії, акушерства і гінекології НАМН України», м. Київ

У статті наведено огляд сучасних даних літератури, які стосуються спадкового порушення обміну речовин — глутарової ацидурії І типу. На прикладі клінічного випадку проілюстровано складність діагностичного пошуку та особливості лікування даного захворювання. Також зроблено акцент на необхідності настороженості клініцистів для своєчасного виявлення потенційно курабельних орфанних захворювань нервової системи.
Ключові слова: глутарова ацидурія, судомні напади, глутарил-кофермент-А дегідрогеназа.

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