Methylmalonic Aciduria in Children: Clinical Recommendations

Methylmalonic Aciduria in Children: Clinical Recommendations

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...

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Main Authors: 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
Format: Article
Language:Russian
Published: Union of pediatricians of Russia 2017-10-01
Series:Педиатрическая фармакология
Subjects:
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.
Online Access:https://www.pedpharma.ru/jour/article/view/1534
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