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GALACTOSEMIA IN NEWBORN CHILDREN

Abstract

Galactosemia is a hereditary disease, the pathogenetic treatment of which is based on dietotherapy. Early diagnosing and the adequate choice of the diet improve the development forecasts for the ill child. The article describes a classical galactosemia case in a newborn. It is shown that despite diagnosing the disease on the second month of life, the adequate selection of etiopathogenetic dietotherapy and etiotropic therapy of the concurrent diseases helped compensate the inborn galactose metabolism defect and optimize the long-term forecast for the child.
Key words: inborn metabolism dysfunctions, alactosemia, dietotherapy, newborn children.

About the Authors

G.V. Yatsyk
Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
Russian Federation


T.E. Borovik
Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
Russian Federation


M.D. Mitish
Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
Russian Federation


T.V. Bushueva
Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
Russian Federation


E.P. Bombardirova
Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
Russian Federation


References

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2. Приказ Минздравсоцразвития России «О массовом обследовании новорожденных детей на наследственные заболевания» от 22.03.2006 г. 7 с.

3. Schweitzer-Kranntz S. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia. Eur. J. Pediatr. 2003; 162: 50–53.

4. Bosch A.M., Grootenhuis M. A., Backer H.D et al. Living with classical galactosaemia: health-related quality of life consequences. Pediatrics. 2004; 113 (5): 423–428.

5. Организация лечебного питания детей в стационарах. Пособие для врачей под редакцией академика А.А. Баранова, проф. К.С. Ладодо. М. 2001. 237 с.

6. Galactosemia: early treatment with an elemental formula. J. Inherit. Metab. Dis. 2005; 28: 63–168.

7. Francis Dorothy. Diet for Sick children. 1987. Р. 339–341.


Review

For citations:


Yatsyk G., Borovik T., Mitish M., Bushueva T., Bombardirova E. GALACTOSEMIA IN NEWBORN CHILDREN. Current Pediatrics. 2007;6(3):107-111.

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ISSN 1682-5527 (Print)
ISSN 1682-5535 (Online)