EARLY DIAGNOSIS OF NEONATAL GALACTOSEMIA


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详细

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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作者简介

I. 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. 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. 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. 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

参考

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  2. Bosch A.M. Classical galactosaemia revisited. J. Inherit. Metab. Dis. 2006; 29(4): 516-25.
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  4. Ko D.H., Jun S.H., Park K. U, Song S. H, Kim J.Q., Song J. Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots. J. Inherit. Metab. Dis. 2011; 34(2): 409-14.
  5. Mason H.H., Turner M.E. Chronic galactosemia: report of case with studies on carbohydrates. Am. J. Dis. Child. 1935; 50: 359-74.
  6. Schweitzer-Krantz S. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia. Eur. J. Pediatr. 2003; 162: 50-3.
  7. Shield J.P., Wadsworth E.J., MacDonald A., Stephenson A., Tyfield L, Holton J.B., Marlow N. The relationship of genotype to cognitive outcome in galactosaemia. Arch. Dis. Child. 2000; 83(3): 248-50.
  8. Woo H.C., Phornphutkul C, Laptook A.R. Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia. J. Perinatol. 2010; 30(4): 295-7.

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