Phenylketonuria in children: Modern aspects of pathogenesis, clinic, treatment

Abstract

The article discusses modern information about phenylketonuria in children. Standard classification of hyperphenylalaninemia is given. The etiopathogenetic aspects of the disease are examined in detail, with an emphasis on the causes of severe brain damage in the absence of treatment. The features of the state of health of children with phenylketonuria on the background of diet therapy are reflected, as well as modern approaches to diagnosis and differential diagnosis, treatment of phenylketonuria and dispensary observation of patients.