Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families

Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the enzyme glutaryl‑CoA dehydrogenase. Metabolic crisis in type 1 glutaric aciduria is an acute life‑threatening condition that requires careful diagnosis with a number of other...

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Hlavní autoři: S. V. Mikhailova, E. V. Saifullina, P. V. Baranova, V. P.   Vorontsova, D.  I.   Gribov, M.   V. Zhivihina, A. N.   Slatetskaya, R.  V.   Magzhanov, V. A.  Samokhvalov, M.  N.  Virtseva, L.     P. Borscheva, E.  E.  Koh, M.   V.  Novikova, A. V.   Abrukova, E.     Yu. Belyashova, N.    Yu. Gerasimenko, L.     V. Guseva, Zh.     V. Yukhimenko, N.     V. Nikitina, T.  I.   Belyaeva, T.   A.  Shkurko, N.   A.  Pichkur, V.     S. Kakaulina, N.   L. Pechatnikova, N .  A. Polyakova, S.    A. Korostelev, D.    V. Pyankov, I.   V. Kanivets, N.   A.  Demina, E.     Yu. Pyrkova, G.     V. Baidakova, M.    V. Kurkina, E.   Yu.  Zakharova
Médium: Artigo
Jazyk:Russo
Vydáno: ABV-press 2021-09-01
Edice:Nervno-Myšečnye Bolezni
Témata:
glutaric acidemia (aciduria) type 1
clinical signs
clinical neuroimaging characteristics
macrocephaly
magnetic resonance imagining
neonatal screening
On-line přístup:https://nmb.abvpress.ru/jour/article/view/451
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