Current aspects of the diagnosis, treatment, and follow-up of children with type I galactosemia

Rossijskij Vestnik Perinatologii i Pediatrii

A. A. Sokolov¹  A. Yu. Asanov²  S. Ya. Volgina³ 

[1] I.I. MechnikovNorth-Western State Medical University, Saint-Petersburg;I.M. Sechenov First Moscow State Medical University;Kazan State Medical University;

关键词: children;    galactosemia;    diagnosis;    treatment;    follow-up.;   

DOI  :  

来源: DOAJ

【 摘 要 】

The paper considers the topical problems arising in children with the most severe form of type I galactosemia. It describes the specific features of neonatal screening for galactosemia. Diagnostic criteria for the classic, clinical, and biochemical variants of galactosemia are presented. The basic characteristics of the clinical picture and late sequels of the disease are identified. Particular emphasis is placed on management tactics for ill children via dietary correction, complication treatments, preventive measures, and a follow-up.

【 授权许可】

Unknown