Clinical Practice in Pediatrics

Galactosemia in children: multidisciplinary aspects of disease

The review of literature features the principal variants of galactosemia (3 types), highlights the pathogenetic issues and genetic  aspects  of  the  classical  and  other  forms  of  disease.  Clinical  manifestations  and  principles  of  diagnosing  galactosemia  (including  antenatal  one),  and  also  current  approaches  to  its  treatment  (predominantly  diet  therapy)  are  discussed. Apart from the general characteristic of diets for galactosemia, its components are analyzed: exclusion of dairy products, choice of natural food with low galactose contents, use of dietetic and other foods (meat, lactose-free vegetable and fruit), some kosher products, and also intake of vitamin preparations and mineral substances. The principles of therapeutic follow-up of children with galactosemia and an evaluation of the efficacy of administered diet therapies are discussed. The necessity of taking into account the lactose contents in administered medication is stressed. The role of children’s  neurologists,  dietitians  and  geneticists  in  diagnosing  and  treatment  of  different  variations  of  galactosemia  is demonstrated.