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.