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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Published in:Russkiĭ zhurnal detskoĭ nevrologii Vol. 17; no. 3; pp. 72 - 78
Main Authors: 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: Journal Article
Language:English
Published: ABV-press 17-12-2022
Subjects:
citrullinemia
inherited metabolic disorders
newborn
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Abstract 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.
AbstractList 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.
Author Podkopaev, D. Yu
Trifonova, E. G.
Ermolenko, N. A.
Ogurtsov, A. V.
Kozheurova, Z. A.
Kaledina, E. Ya
Golosnaya, G. S.
Ginen, Ya. Ya
Baranova, P. V.
Politov, D. A.
Belousova, T. N.
Novikov, M. Yu
Knyazeva, N. Yu
Kholichev, D. A.
Krasnorutskaya, O. N.
Tukabaev, G. P.
Makulova, A. I.
Seleznev, K. A.
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  organization: N.P. Bochkov Research Center for Medical Genetics
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SubjectTerms citrullinemia
inherited metabolic disorders
newborn
Title Citrullinemia in a newborn: a case report
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