GALACTOSEMIA TYPE I: A CASE FROM PRACTICE

Abstract

Galactosemia is a hereditary disorder of carbohydrate metabolism, as a result of mutation of genes encoding enzymes involved in galactose metabolism. With late diagnosis and the absence of pathogenetically justifi ed diet therapy, the disease can lead to multiple organ failure and death. The article presents the issues of pathogenesis, clinical manifestations, diagnosis and principles of dietary therapy of galactosemia in children. The author presents his own clinical observation, which highlights a complex example of diff erential diagnosis of galactosemia with intrauterine infection in a child in the neonatal period.