Galactosemia: a rare case in pediatric practice
Abstract
Galactosemia is a rare life-threatening inherited autosomal recessive disease, the differential diagnosis of which has been very difficult up to date, especially if there are no results of neonatal screening for some reasons. The paper describes a clinical case of a 10-day patient with type I classic galactosemia and reflects the importance of a timely diagnostic search and switching him to lactose-free formulas.
About the Authors
S. Ya. Volgina
Kazan State Medical University
Russian Federation
Russian Federation
R. G. Fatkullina
Republican Children's Clinical Hospital, Kazan
Russian Federation
Russian Federation
E. S. Glinskaya
Kazan State Medical University
Russian Federation
Russian Federation
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Review
For citations:
Volgina S.Ya., Fatkullina R.G., Glinskaya E.S. Galactosemia: a rare case in pediatric practice. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2015;60(5):216-219. (In Russ.)
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