Classical galactosemia is an inherited disorder of the carbohydrate metabolism, most often caused by the deficient activity of the enzyme galactose-1-phosphate-uridyltransferase. Classical galactosemia presents in the neonatal period with life threatening illness after galactose is introduced in the diet. Symptoms and signs include poor feeding, vomiting, and diarrhea, weight loss, jaundice, hypotension, cataracts, hepatosplenomegaly, hepatocellular insufficiency, and encephalopathy. Since 1975 the testing for galactosemia is part of the neonatal screening program in Hungary. Affected newborns are recognized in the first days of their life, and special diet is introduced immediately. The therapy of galactosemia is the lactose-free and galactose-poor diet for life. As a result of the nationwide newborn screening and the lifelong medical therapy, early treatment with galactosemia can achieve a normal life without serious complications. Orv Hetil. 2017; 158(47): 1864-1867.
Keywords: diet; diéta; galactosaemia; galactosemia; inborn errors of metabolism; lactose; laktóz; veleszületett anyagcsere-betegség.