EARLY DIAGNOSIS OF NEONATAL GALACTOSEMIA
- Authors: ORLOVSKAYA I.V1, PEREPELKINA A.E1, GROSHEVA E.V1, RYUMINA I.I1
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Affiliations:
- Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia
- Issue: No 8-2 (2012)
- Pages: 107-110
- Section: Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/246872
- ID: 246872
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Abstract
Galactosemia is a hereditary metabolic disease, the pathogenetic treatment of which is based on dietary therapy. The early diagnosis and timely therapy of the disease determines its prognosis and course. The paper describes a case of classical galactosemia in a neonatal infant and shows that its early diagnosis and adequate choice of etiopathogenetic dietary therapy could achieve compensation for congenital galactose metabolic defect and optimize the further development of the infant.
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About the authors
I. V ORLOVSKAYA
Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia
Email: irinaorlovskaya@mail.ru
A. E PEREPELKINA
Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia
Email: perepelkina-a@mail.ru
E. V GROSHEVA
Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia
Email: evgrosheva@yandex.ru
I. I RYUMINA
Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia
Email: i.ryumina@mail.ru
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