Citrullinemia in a newborn: a case report

Citrullinemia in a newborn: a case report

Inherited metabolic disorders have a specific place among cases of sudden deterioration of the newborn’s condition. Therapies have been developed for some of these disorders. Accurate verification of the diagnosis is extremely important for choosing an optimal treatment strategy. However, treatment...

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Veröffentlicht in:Russkiĭ zhurnal detskoĭ nevrologii 2022-12, Vol.17 (3), p.72-78
Hauptverfasser: Golosnaya, G. S., Belousova, T. N., Novikov, M. Yu, Knyazeva, N. Yu, Podkopaev, D. Yu, Trifonova, E. G., Makulova, A. I., Ginen, Ya. Ya, Kozheurova, Z. A., Kholichev, D. A., Politov, D. A., Baranova, P. V., Ermolenko, N. A., Krasnorutskaya, O. N., Kaledina, E. Ya, Tukabaev, G. P., Ogurtsov, A. V., Seleznev, K. A.
Format: Artikel
Sprache:eng
Schlagworte:
citrullinemia
inherited metabolic disorders
newborn
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Zusammenfassung:Inherited metabolic disorders have a specific place among cases of sudden deterioration of the newborn’s condition. Therapies have been developed for some of these disorders. Accurate verification of the diagnosis is extremely important for choosing an optimal treatment strategy. However, treatment is not always successful due to the rapid progression of symptoms. We report a case of citrullinemia diagnosed in a newborn in Vidnoye Perinatal Center.
ISSN:2073-8803
2412-9178
DOI:10.17650/2073-8803-2022-17-3-72-78