Без права на ошибку: клинический случай глутаровой ацидурии I типа
DOI:
https://doi.org/10.15574/PP.2018.73.125Ключевые слова:
глутаровая ацидурия, судорожные припадки, глутарил-кофермент-А дегидрогеназаАннотация
Представлен обзор современных данных литературы, касающихся наследственного нарушения обмена веществ — глутаровой ацидурии І типа. На примере клинического случая проиллюстрирована сложность диагностического поиска и особенности лечения данного заболевания. Также сделан акцент на необходимости настороженности клиницистов для своевременного выявления потенциально курабельных орфанных заболеваний нервной системы.
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