vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v21i6S.2503vsp-3089Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWНарушения митохондриального бета-окисления жирных кислот у детей: обзор литературыMitochondrial Fatty Acid Beta-Oxidation Disorders in Children: Literature Reviewhttps://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNatalia V.

Журкова Наталия Вячеславовна кандидат медицинских наук, ведущий научный сотрудник отдела орфанных болезней и профилактики инвалидизирующих заболеваний НИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского» Минобрнауки России.

119333, Москва, ул. Фотиевой, д. 10, к. 1

Moscow

n1972z@yandex.ruhttps://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato V.

Москва

Moscow

https://orcid.org/0000-0002-3697-4283СурковА. Н.SurkovAndrey N.

Москва

Moscow

https://orcid.org/0000-0002-3720-8046СмирноваО. Я.SmirnovaOlga Ya.

Москва

Moscow

https://orcid.org/0000-0002-5036-8407СергиенкоН. С.SergienkoNatalia S.

Москва

Moscow

https://orcid.org/0000-0002-7763-5085ОвсяникН. Г.OvsyanikNatallia G.

Москва

Moscow

https://orcid.org/0000-0002-3678-7939СелимзяноваЛ. Р.SelimzyanovaLilia R.

Москва

Moscow

НИИ педиатрии и охраны здоровья детей НКЦ №2, ФГБНУ РНЦХ им. акад. Б.В. Петровского; МГНЦ им. акад. Н.П. БочковаРоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Research Centre for Medical GeneticsRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2, ФГБНУ РНЦХ им. акад. Б.В. Петровского; РНИМУ им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2, ФГБНУ РНЦХ им. акад. Б.В. ПетровскогоРоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryRussian Federation202220012023216S522528Copyright © Журкова Н.В., Вашакмадзе Н.Д., Сурков А.Н., Смирнова О.Я., Сергиенко Н.С., Овсяник Н.Г., Селимзянова Л.Р., 20232023Журкова Н.В., Вашакмадзе Н.Д., Сурков А.Н., Смирнова О.Я., Сергиенко Н.С., Овсяник Н.Г., Селимзянова Л.Р.Zhurkova N.V., Vashakmadze N.V., Surkov A.N., Smirnova O.Y., Sergienko N.S., Ovsyanik N.G., Selimzyanova L.R.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/3089

Наследственные нарушения митохондриального бета-окисления жирных кислот — гетерогенная группа наследственных болезней обмена веществ, характеризующаяся нарушением метаболизма жирных кислот в митохондриях, что приводит к поражению центральной нервной системы, скелетной мускулатуры, сердечно-сосудистой системы, печени, развитию некетотической гипогликемии. Возраст манифестации заболевания и тяжесть клинических проявлений варьируют от тяжелых, неонатальных, до более легких, миопатических (взрослых), форм. Расширение программы массового скрининга в России позволяет выявлять заболевания данной группы в первые недели жизни. Наличие эффективной терапии нарушений митохондриального бета-окисления, особенно при ранней диагностике, дает возможность своевременно стабилизировать состояние пациента, предотвратить развитие тяжелых осложнений. Информированность педиатров, неонатологов, неврологов, кардиологов о заболеваниях данной группы является актуальной задачей современной педиатрии.

Congenital mitochondrial fatty acid beta-oxidation disorders are a heterogeneous group of metabolic disorders characterized by impaired fatty acid metabolism in mitochondria. It results in central nervous system, skeletal muscle, cardiovascular system, and liver damage, as well as the development of nonketotic hypoglycemia. The age of disease manifestation and its severity range from severe (neonatal) to milder myopathic (adult) forms. The extension of the mass screening program in Russian Federation allows to detect these diseases during the first weeks of life. The availability of effective therapy for mitochondrial fatty acid beta-oxidation disorders, especially during early diagnosis, enables timely stabilization of the patient's condition and prevention of severe complications. Awareness of pediatricians, neonatologists, neurologists, and cardiologists about such diseases is the urgent task of modern pediatrics.

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Ссылка активна на 25.12.2022.Order of the Ministry of Health of the Russian Federation № 274н dated April 21, 2022 “Ob utverzhdenii poryadka okazaniya meditsinskoi pomoshchi patsientam s vrozhdennymi i/ili nasledstvennymi zabolevaniyami”. (In Russ). Доступно по: https://rg.ru/documents/2022/07/14/minzdrav-prikaz274-site-dok.html. Ссылка активна на 25.12.2022.

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