Педиатрическая фармакология (Oct 2017)
Methylmalonic Aciduria in Children: Clinical Recommendations
- Alexander A. Baranov,
- Leyla S. Namasova-Baranova,
- Tatyana E. Borovik,
- Tatyana V. Bushueva,
- Elena A. Vishneva,
- Oksana V. Globa,
- Nataliya V. Zhurkova,
- Elena Yu. Zakharova,
- Natal’ya G. Zvonkova,
- Lyudmila M. Kuzenkova,
- Sergei I. Kutsev,
- Svetlana V. Mikhailova,
- Ekaterina A. Nikolaeva,
- Petr V. Novikov,
- Alexander A. Pushkov,
- Kirill V. Savostianov,
- Liliya R. Selimzyanova
Affiliations
- Alexander A. Baranov
- National Medical Research Center of Children’s Health
- 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
- Tatyana E. Borovik
- National Medical Research Center of Children’s Health L.M. Secheniv First Moscow State Medical Univercity Ministry of Health of Russia
- Tatyana V. Bushueva
- National Medical Research Center of Children’s Health
- Elena A. Vishneva
- National Medical Research Center of Children’s Health
- Oksana V. Globa
- National Medical Research Center of Children’s Health L.M. Secheniv First Moscow State Medical Univercity Ministry of Health of Russia
- Nataliya V. Zhurkova
- National Medical Research Center of Children’s Health
- Elena Yu. Zakharova
- Medical Genetics Research Center
- 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
- Lyudmila M. Kuzenkova
- National Medical Research Center of Children’s Health L.M. Secheniv First Moscow State Medical Univercity Ministry of Health of Russia
- Sergei I. Kutsev
- Medical Genetics Research Center
- Svetlana V. Mikhailova
- Russian Children’s Clinical Hospital
- Ekaterina A. Nikolaeva
- The Russian National Research Medical University named after N.I. Pirogov
- Petr V. Novikov
- The Russian National Research Medical University named after N.I. Pirogov
- Alexander A. Pushkov
- National Medical Research Center of Children’s Health
- Kirill V. Savostianov
- National Medical Research Center of Children’s Health
- Liliya R. Selimzyanova
- National Medical Research Center of Children’s Health L.M. Secheniv First Moscow State Medical Univercity Ministry of Health of Russia
- DOI
- https://doi.org/10.15690/pf.v14i4.1757
- Journal volume & issue
-
Vol. 14,
no. 4
pp. 258 – 271
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.
Keywords
- b12-dependent form of methylmalonic acidemia
- b12-resistant form of methylmalonic acidemia
- valine
- secondary hyperammonia
- secondary carnitine deficiency
- hyperglycinemia
- glycine
- isoleucine
- levocarnitine
- metabolic ketoacidosis
- methylmalonyl- coa mutase
- methionine
- propionylarnitine
- free carnitine
- threonine
- cyanocobalamin.
