medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2023.11.58-64medgen-2368Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL CASEУльтраредкая форма нарушения метаболизма жирных кислот у взрослых: клиническое наблюдениеAn ultra-rare form of fatty acid metabolism disorder in adults: a case reportСеребренниковВ. Н.SerebrennikovV. N.

143420, Московская область, городской округ Красногорск, п. Новый, д. 1

1, Novyiy village, Krasnogorsk, Moscow region, 143420

vserebrennikov@list.ruБакшеевВ. И.BaksheevV. I.

143420, Московская область, городской округ Красногорск, п. Новый, д. 1

1, Novyiy village, Krasnogorsk, Moscow region, 143420

СеребренниковаК. В.SerebrennikovaK. V.

119071, г. Москва, Ленинский проспект, д. 33, стр. 2

33-2, Leninsky prospekt, Moscow, 119071

ПрохорчикА. А.ProkhorchikA. A.

143420, Московская область, городской округ Красногорск, п. Новый, д. 1

1, Novyiy village, Krasnogorsk, Moscow region, 143420

БайдаковаГ. В.BaydakovaG. V.

115522 Москва, ул. Москворечье, 1

1, Moskvorechie st., Moscow, 115478

БарановаП. В.BaranovaP. V.

115522 Москва, ул. Москворечье, 1

1, Moskvorechie st., Moscow, 115478

ЗахароваЕ. Ю.ZakharovaE. Yu.

115522 Москва, ул. Москворечье, 1

1, Moskvorechie st., Moscow, 115478

ФГБУ «Национальный медицинский исследовательский центр высоких медицинских технологий - центральный военный клинический госпиталь имени А.А. Вишневского» Министерства обороны Российской ФедерацииРоссияNational Medical Research Center for High Medical Technologies - Central Military Clinical Hospital named after A.A. Vishnevsky of the Ministry of Defense of the Russian FederationRussian FederationФГБУ «Национальный медицинский исследовательский центр высоких медицинских технологий - центральный военный клинический госпиталь имени А.А. Вишневского» Министерства обороны Российской ФедерацииРоссияNational Medical Research Center for High Medical Technologies - Central Military Clinical Hospital named after A.A. Vishnevsky of the Ministry of Defense of the Russian FederationRussian FederationФГУ «Федеральный исследовательский центр «Фундаментальные основы биотехнологии» Российской академии наук»РоссияResearch Center of Biotechnology of the Russian Academy of SciencesRussian FederationФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian Federation20230812202322115864Copyright © Серебренников В.Н., Бакшеев В.И., Серебренникова К.В., Прохорчик А.А., Байдакова Г.В., Баранова П.В., Захарова Е.Ю., 20232023Серебренников В.Н., Бакшеев В.И., Серебренникова К.В., Прохорчик А.А., Байдакова Г.В., Баранова П.В., Захарова Е.Ю.Serebrennikov V.N., Baksheev V.I., Serebrennikova K.V., Prokhorchik A.A., Baydakova G.V., Baranova P.V., Zakharova E.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2368

Представлена клиническая и молекулярно-генетическая характеристика первого в России случая глутаровой ацидурии 2-го типа (ГА2, множественная недостаточность ацил-КoA дегидрогеназы) у взрослого пациента, развившейся на фоне физической нагрузки и новой коронавирусной инфекции COVID-19. Обнаружена не описанная ранее мутация NM_004453.4:c.886G>C (p.Gly296Arg) (СМ081237) в гене ETFDH.

The article presents clinical, genetic and molecular characteristics of the first case of glutaric aciduria type 2 (GA2, multiple acyl-CoA dehydrogenase deficiency) in an adult patient in Russia, which was triggered by physical activity and COVID-19. A previously undescribed mutation NM_004453.4:c.886G>C (p.Gly296Arg) (CM081237) in the ETFDH gene was discovered.

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The authors declare that there are no conflicts of interest present.