Mitochondrial Fatty Acid Beta-Oxidation Disorders in Children: Literature Review
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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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"Paediatrician" Publishers LLC
2023-01-01
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| Series: | Вопросы современной педиатрии |
| Subjects: | |
| Online Access: | https://vsp.spr-journal.ru/jour/article/view/3089 |
| _version_ | 1797702199825924096 |
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| author | Natalia V. Zhurkova Nato V. Vashakmadze Andrey N. Surkov Olga Ya. Smirnova Natalia S. Sergienko Natallia G. Ovsyanik Lilia R. Selimzyanova |
| author_facet | Natalia V. Zhurkova Nato V. Vashakmadze Andrey N. Surkov Olga Ya. Smirnova Natalia S. Sergienko Natallia G. Ovsyanik Lilia R. Selimzyanova |
| author_sort | Natalia V. Zhurkova |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T04:47:43Z |
| format | Article |
| id | doaj.art-294e550f1d314365ba100ca8d75c0240 |
| institution | Directory Open Access Journal |
| issn | 1682-5527 1682-5535 |
| language | English |
| last_indexed | 2024-03-12T04:47:43Z |
| publishDate | 2023-01-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj.art-294e550f1d314365ba100ca8d75c02402023-09-03T09:26:49Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352023-01-01216S52252810.15690/vsp.v21i6S.25032078Mitochondrial Fatty Acid Beta-Oxidation Disorders in Children: Literature ReviewNatalia V. Zhurkova0Nato V. Vashakmadze1Andrey N. Surkov2Olga Ya. Smirnova3Natalia S. Sergienko4Natallia G. Ovsyanik5Lilia R. Selimzyanova6НИИ педиатрии и охраны здоровья детей НКЦ №2, ФГБНУ РНЦХ им. акад. Б.В. Петровского; МГНЦ им. акад. Н.П. БочковаНИИ педиатрии и охраны здоровья детей НКЦ №2, ФГБНУ РНЦХ им. акад. Б.В. Петровского; РНИМУ им. Н.И. ПироговаНИИ педиатрии и охраны здоровья детей НКЦ №2, ФГБНУ РНЦХ им. акад. Б.В. ПетровскогоНИИ педиатрии и охраны здоровья детей НКЦ №2, ФГБНУ РНЦХ им. акад. Б.В. ПетровскогоНИИ педиатрии и охраны здоровья детей НКЦ №2, ФГБНУ РНЦХ им. акад. Б.В. ПетровскогоНИИ педиатрии и охраны здоровья детей НКЦ №2, ФГБНУ РНЦХ им. акад. Б.В. ПетровскогоНИИ педиатрии и охраны здоровья детей НКЦ №2, ФГБНУ РНЦХ им. акад. Б.В. Петровского; РНИМУ им. Н.И. ПироговаCongenital 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.https://vsp.spr-journal.ru/jour/article/view/3089нарушения митохондриального бета-окисления жирных кислотнекетотическая гипогликемиянарушения обмена карнитинагипераммониемия |
| spellingShingle | Natalia V. Zhurkova Nato V. Vashakmadze Andrey N. Surkov Olga Ya. Smirnova Natalia S. Sergienko Natallia G. Ovsyanik Lilia R. Selimzyanova Mitochondrial Fatty Acid Beta-Oxidation Disorders in Children: Literature Review Вопросы современной педиатрии нарушения митохондриального бета-окисления жирных кислот некетотическая гипогликемия нарушения обмена карнитина гипераммониемия |
| title | Mitochondrial Fatty Acid Beta-Oxidation Disorders in Children: Literature Review |
| title_full | Mitochondrial Fatty Acid Beta-Oxidation Disorders in Children: Literature Review |
| title_fullStr | Mitochondrial Fatty Acid Beta-Oxidation Disorders in Children: Literature Review |
| title_full_unstemmed | Mitochondrial Fatty Acid Beta-Oxidation Disorders in Children: Literature Review |
| title_short | Mitochondrial Fatty Acid Beta-Oxidation Disorders in Children: Literature Review |
| title_sort | mitochondrial fatty acid beta oxidation disorders in children literature review |
| topic | нарушения митохондриального бета-окисления жирных кислот некетотическая гипогликемия нарушения обмена карнитина гипераммониемия |
| url | https://vsp.spr-journal.ru/jour/article/view/3089 |
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