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.
Keywords
About the Authors
Alexander A. BaranovRussian Federation
Leyla S. Namasova-Baranova
Russian Federation
Tatyana E. Borovik
Russian Federation
Tatyana V. Bushueva
Russian Federation
Elena A. Vishneva
Russian Federation
Oksana V. Globa
Russian Federation
Nataliya V. Zhurkova
Russian Federation
Elena Yu. Zakharova
Russian Federation
Natal’ya G. Zvonkova
Russian Federation
Lyudmila M. Kuzenkova
Russian Federation
Sergei I. Kutsev
Russian Federation
Svetlana V. Mikhailova
Russian Federation
Ekaterina A. Nikolaeva
Russian Federation
Petr V. Novikov
Russian Federation
Alexander A. Pushkov
Russian Federation
Kirill V. Savostianov
Russian Federation
Liliya R. Selimzyanova
Russian Federation
References
1. Coelho D, Kim JC, Miousse IR, et al. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012;44(10):1152–1155. doi: 10.1038/ng.2386.
2. Coelho D, Suormala T, Stucki M, et al. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med. 2008;358(14):1454–1464. doi: 10.1056/NEJMoa072200.
3. Баранов А.А., Намазова-Баранова Л.С., Боровик Т.Э., и др. Диетотерапия при наследственных болезнях аминокислотного обмена. Методическое письмо. — М.; 2013. — 97 с. [Baranov AA, Namazova-Baranova LS, Borovik TE, et al. Dietoterapiya pri nasledstvennykh boleznyakh aminokislotnogo obmena. Metodicheskoe pis’mo. Moscow; 2013. 97 p. (In Russ).]
4. Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C. Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet. 2006;142C(2):104–112. doi: 10.1002/ajmg.c.30090.
5. Ma X, Zhang Y, Yang Y, et al. Epilepsy in children with methylmalonic acidemia: electroclinical features and prognosis. Brain Dev. 2011;33(9):790–795. doi: 10.1016/j.braindev.2011.06.001.
6. Filippi L, Gozzini E, Fiorini P, et al. N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. Neonatology. 2010;97(3):286–290. doi: 10.1159/000255168.
7. Baumgartner MR, Horster F, Dionisi-Vici C, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014;9:130. doi: 10.1186/s13023-014-0130-8.
8. Zwickler T, Lindner M, Aydin HI, et al. Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. J Inherit Metab Dis. 2008;31(3):361–367. doi: 10.1007/s10545-008-0804-2.
9. Fowler B, Leonard JV, Baumgartner MR. Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis. 2008;31(3):350–360. doi: 10.1007/s10545-008-0839-4.
10. Horster F, Garbade SF, Zwickler T, et al. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis. 2009;32(5):630–639. doi: 10.1007/s10545-009-1189-6.
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