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Methylmalonic Aciduria in Children: Clinical Recommendations

https://doi.org/10.15690/pf.v14i4.1757

Abstract

Methylmalonic acidemia (aciduria) is an inherited metabolic disturbance from the group of organic acidemias (acidurias). The article presents etiopathogenetic, epidemiological, diagnostic, and therapeutic aspects of the problem. The possibilities of laboratory and instrumental diagnostic methods the tactics of dietary correction of metabolic disorders in acute and interstitial periods of the disease are described in details; features of drug treatment are outlined. The necessary information for clinical practice and patients’ everyday life is given in the article.

About the Authors

Alexander A. Baranov
National Medical Research Center of Children’s Health
Russian Federation


Leyla S. Namasova-Baranova
National Medical Research Center of Children’s Health L.M. Secheniv First Moscow State Medical Univercity Ministry of Health of Russia The Russian National Research Medical University named after N.I. Pirogov
Russian Federation


Tatyana E. Borovik
National Medical Research Center of Children’s Health L.M. Secheniv First Moscow State Medical Univercity Ministry of Health of Russia
Russian Federation


Tatyana V. Bushueva
National Medical Research Center of Children’s Health
Russian Federation


Elena A. Vishneva
National Medical Research Center of Children’s Health
Russian Federation


Oksana V. Globa
National Medical Research Center of Children’s Health L.M. Secheniv First Moscow State Medical Univercity Ministry of Health of Russia
Russian Federation


Nataliya V. Zhurkova
National Medical Research Center of Children’s Health
Russian Federation


Elena Yu. Zakharova
Medical Genetics Research Center
Russian Federation


Natal’ya G. Zvonkova
National Medical Research Center of Children’s Health L.M. Secheniv First Moscow State Medical Univercity Ministry of Health of Russia
Russian Federation


Lyudmila M. Kuzenkova
National Medical Research Center of Children’s Health L.M. Secheniv First Moscow State Medical Univercity Ministry of Health of Russia
Russian Federation


Sergei I. Kutsev
Medical Genetics Research Center
Russian Federation


Svetlana V. Mikhailova
Russian Children’s Clinical Hospital
Russian Federation


Ekaterina A. Nikolaeva
The Russian National Research Medical University named after N.I. Pirogov
Russian Federation


Petr V. Novikov
The Russian National Research Medical University named after N.I. Pirogov
Russian Federation


Alexander A. Pushkov
National Medical Research Center of Children’s Health
Russian Federation


Kirill V. Savostianov
National Medical Research Center of Children’s Health
Russian Federation


Liliya R. Selimzyanova
National Medical Research Center of Children’s Health L.M. Secheniv First Moscow State Medical Univercity Ministry of Health of Russia
Russian Federation


References

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11. Методические рекомендации 2.3.1.2432-08 «Нормы физиологических потребностей в энергии и пищевых веществах для различных групп населения Российской Федерации» (утв. Главным государственным санитарным врачом РФ 18 декабря 2008 г.). [Metodicheskie rekomendatsii 2.3.1.2432-08 «Normy fiziologicheskikh potrebnostei v energii i pishchevykh veshchestvakh dlya razlichnykh grupp naseleniya Rossiiskoi Federatsii» (utv. Glavnym gosudarstvennym sanitarnym vrachom RF 18 dekabrya 2008). (In Russ).] Доступно по: http://base.garant.ru/2168105/. Ссылка активна на 10.07.2017.


Review

For citations:


Baranov A.A., Namasova-Baranova L.S., Borovik T.E., Bushueva T.V., Vishneva E.A., Globa O.V., Zhurkova N.V., Zakharova E.Yu., Zvonkova N.G., Kuzenkova L.M., Kutsev S.I., Mikhailova S.V., Nikolaeva E.A., Novikov P.V., Pushkov A.A., Savostianov K.V., Selimzyanova L.R. Methylmalonic Aciduria in Children: Clinical Recommendations. Pediatric pharmacology. 2017;14(4):258-271. (In Russ.) https://doi.org/10.15690/pf.v14i4.1757

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ISSN 1727-5776 (Print)
ISSN 2500-3089 (Online)