Mitochondrial Fatty Acid Beta-Oxidation Disorders in Children: Literature Review
Natalia V. Zhurkova,
Nato V. Vashakmadze,
Andrey N. Surkov,
Olga Ya. Smirnova,
Natalia S. Sergienko,
Natallia G. Ovsyanik,
Lilia R. Selimzyanova https://doi.org/10.15690/vsp.v21i6S.2503
Abstract
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.
Keywords
mitochondrial fatty acid beta-oxidation disorders,
nonketotic hypoglycemia,
carnitine imbalance,
hyperammonemia
Supporting agencies: Not specified
About the Authors
Natalia V. Zhurkova
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Research Centre for Medical Genetics
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Lecturing for pharmaceutical companies Takeda, Sanofi, Biomarin, Nanolek, Nutricia.
Nato V. Vashakmadze
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Lecturing for pharmaceutical companies Takeda, Sanofi, Biomarin, Nanolek, Chiesi.
Andrey N. Surkov
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Lecturing for pharmaceutical companies PTC Therapeutics, ООО Swixx BioPharma, Valenta Pharmaceuticals, OTCPharm.
Olga Ya. Smirnova
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Author confirmed the absence of a reportable conflict of interests.
Natalia S. Sergienko
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Author confirmed the absence of a reportable conflict of interests.
Natallia G. Ovsyanik
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Author confirmed the absence of a reportable conflict of interests.
Lilia R. Selimzyanova
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Lecturing for pharmaceutical companies AstraZeneca, Bionorica.
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Review
For citations:
Zhurkova N.V., Vashakmadze N.V., Surkov A.N., Smirnova O.Ya., Sergienko N.S., Ovsyanik N.G., Selimzyanova L.R. Mitochondrial Fatty Acid Beta-Oxidation Disorders in Children: Literature Review. Current Pediatrics. 2022;21(6S):522-528. (In Russ.) https://doi.org/10.15690/vsp.v21i6S.2503
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