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...
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| Formatua: | Artikulua |
| Hizkuntza: | English |
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"Paediatrician" Publishers LLC
2023-01-01
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| Saila: | Вопросы современной педиатрии |
| Gaiak: | |
| Sarrera elektronikoa: | https://vsp.spr-journal.ru/jour/article/view/3089 |
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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 | 2025-03-14T09:36:43Z |
| publishDate | 2023-01-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj.art-294e550f1d314365ba100ca8d75c02402025-03-02T11:34:25Zeng"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. Selimzyanova6Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Research Centre for Medical GeneticsResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityCongenital 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/3089mitochondrial fatty acid beta-oxidation disordersnonketotic hypoglycemiacarnitine imbalancehyperammonemia |
| 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 mitochondrial fatty acid beta-oxidation disorders nonketotic hypoglycemia carnitine imbalance hyperammonemia |
| 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 | mitochondrial fatty acid beta-oxidation disorders nonketotic hypoglycemia carnitine imbalance hyperammonemia |
| url | https://vsp.spr-journal.ru/jour/article/view/3089 |
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