neurojourНеврологический журнал имени Л.О. БадалянаL.O. Badalyan Neurological Journal2686-89972712-794XФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/2686-8997-2022-3-2-82-95neurojour-68Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESГлутаровая ацидемия тип 1 (клинические случаи)Glutaric acidemia type 1 (clinical cases)https://orcid.org/0000-0002-6084-4892ГлобаОксана ВалерьевнаGlobaOksana V.

Кандидат медицинских наук, старший научный сотрудник лаборатории нервных болезней ФГАУ «НМИЦ здоровья детей» Минздрава России, 115522, Москва.

e-mail: globa@nczd.ru

MD, PhD, Senior Researcher at the Laboratory of Nervous Diseases of the National Medical Research Center of Children’s Health of the Ministry of Health of the Russian Federation, Moscow, 119991, Russian Federation.

e-mail: globa@nczd.ru

globa@nczd.ruhttps://orcid.org/0000-0002-9562-3774КузенковаЛ. М.KuzenkovaLyudmila M.noemail@neicon.ruhttps://orcid.org/0000-0001-9893-9291БушуеваТ. В.BushuevaTatiana V.noemail@neicon.ruhttps://orcid.org/0000-0001-6648-2063ПушковА. А.PushkovAleksander A.noemail@neicon.ruhttps://orcid.org/0000-0003-4885-4171СавостьяновК. В.Savost’YanovKirill V.noemail@neicon.ruhttps://orcid.org/0000-0001-9955-1440АникинА. В.AnikinAnatoliy V.noemail@neicon.ruhttps://orcid.org/0000-0001-6153-1292ЗыряноваО. И.ZyrianovaOlga I.noemail@neicon.ruhttps://orcid.org/0000-0003-4251-7107БукшА. А.BukshAleksander A.noemail@neicon.ruФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России; ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» (Сеченовский Университет)РоссияNational Medical Research Center for Children’s Health of the Ministry of Health of the Russian Federation; I.M. Sechenov First Moscow State Medical UniversityRussian FederationФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России; ФГБУ «Медико-генетический центр им. акад. Н.П. Бочкова»РоссияNational Medical Research Center for Children’s Health of the Ministry of Health of the Russian Federation; Academician N.P. Bochkov Medical Genetic CenterRussian FederationФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииРоссияNational Medical Research Center for Children’s Health of the Ministry of Health of the Russian FederationRussian Federation202221072022328295Copyright © Глоба О.В., Кузенкова Л.М., Бушуева Т.В., Пушков А.А., Савостьянов К.В., Аникин А.В., Зырянова О.И., Букш А.А., 20222022Глоба О.В., Кузенкова Л.М., Бушуева Т.В., Пушков А.А., Савостьянов К.В., Аникин А.В., Зырянова О.И., Букш А.А.Globa O.V., Kuzenkova L.M., Bushueva T.V., Pushkov A.A., Savost’Yanov K.V., Anikin A.V., Zyrianova O.I., Buksh A.A.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.neuro-journal.ru/jour/article/view/68

Глутаровая ацидурия тип 1 (ГА-1; синонимы: недостаточность глутарил-КоА-дегидрогеназы, глутаровая ацидемия тип 1; OMIM 231670, МКБ 10 Е.72.3) — аутосомно-рецессивное заболевание, обусловленное мутациями в гене, кодирующем глутарил-КоА-дегидрогеназу, которая играет важную роль в деградационном метаболизме L-лизина, L-гидроксилизина и L-триптофана. Недостаточность или отсутствие фермента приводит к накоплению побочных продуктов деградации указанных аминокислот: глутаровой, 3-гидроксиглутаровой, глутаконовой кислот и глутарилкарнитина. Накопление глутаровой и 3-ОН-глутаровой кислот вызывает нейротоксичность. ГА-1 может дебютировать энцефалитоподобными кризами в раннем детском возрасте: от 3 мес до 3 лет (инфантильное начало) или с 6 лет (позднее начало). Кризы характеризуются прогрессирующими неврологическими двигательными расстройствами, гиперкинезами различных типов, изменением мышечного тонуса по спастическому типу, высокой частотой развития инвалидизации и смертности. Примерно в 25% случаев ГА-1 имеет подострое течение и проявляется на 1-м году жизни задержкой психомоторного развития с постепенным развитием гиперкинетического синдрома и спастичности. Осведомлённость и настороженность врачей в отношении заболеваний из группы наследственных болезней обмена веществ поможет своевременно назначать и проводить терапию как в остром периоде, так и в межприступный период для предотвращения ухудшения состояния и инвалидизации пациентов.

Участие авторов

Участие авторов:Глоба О.В. — концепция, написание текста, редактирование текста;Кузенкова Л.М. — концепция, редактирование текста;Бушуева Т.В. — концепция, редактирование текста;Савостьянов К.В. — концепция, редактирование текста;Пушков А.А. — концепция, редактирование текста;Аникин А.В. — концепция, написание текста, редактирование текста;Зырянова О.И. — концепция, написание текста;Букш А.А. — концепция, написание текста;Все соавторы — утверждение окончательного варианта статьи, ответственность за целостность всех частей статьи.

Финансирование

Финансирование. Исследование не имело спонсорской поддержки.

Конфликт интересов

Конфликт интересов. Авторы декларируют отсутствие явных и потенциальных конфликтов интересов в связи с публикацией данной статьи.

Поступила 02

Поступила 02.04.2022 Принята к печати 12.05.2022Опубликована 30.06.2022

Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency, glutaric acidemia type 1) (OMIM 231670) is an autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). Glutaryl-CoA dehydrogenase (GCDH) plays an important role in the degradation metabolism of L-lysine, L-hydroxylysine and L-tryptophan. The insufficiency or absence of the enzyme leads to the accumulation of by-products of degradation of such amino acids as glutaric acid, 3-hydroxyglutaric acid, glutarylcarnitine (C5DC-acylcarnitine) and glutaconic acid. The accumulation of glutaric acid and 3-OH-glutaric acid causes neurotoxicity. Glutaric aciduria type 1 can manifest itself in early childhood with encephalitis-like crises: from three months to three years as GA-1 with infantile onset or from the age of six years as the late onset of GA-1. It is characterized by progressive neurological motor disorders, with the appearance of various types of hyperkinesis in combination with spasticity, a high incidence of disability and mortality. In about 25% of cases, the disease has a subacute course and manifests over the first year of life with a delay in psychomotor development, the gradual development of hyperkinetic syndrome, and spasticity. Awareness of doctors and alertness regarding diseases from the group of hereditary metabolic diseases will help to carry out therapy in a timely manner both in the acute period and in the appointment of long-term therapy to prevent disability of patients.

Contribution

Contribution:Globa O.V. — concept, text writing, text editing;Kuzenkova L.M. — concept, text editing;Bushueva T.V. — concept, text editing;Pushkov A.A. — concept, text editing;Savost’yanov K.V. — concept, text editing;Anikin A.V. — concept, text writing, text editing;Zyryanova O.I. — concept, writing of the text;Buksh A.A. — concept, text writing.All co-authors are responsible for the  integrity of all parts of the manuscript and approval of its final version.

Conflict of interest

Conflict of interest. The authors declare no conflict of interest.

Acknowledgements

Acknowledgements. The study had no sponsorship.

Received

Received: April 04, 2022Accepted  May 12, 2022Published: March 30, 2022

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