The case history of a baby girl suffering galactosemia is described. This was due to a deficit of galactose-1-phosphate uridyl transferase, with symptoms during the neonatal period consisting in weight loss, vomiting, jaundice and bleeding syndrome. From the twelfth day of life, a strict diet without galactose was imposed and controlled by measuring galactose and Hb A1 in serum.
View Article and Find Full Text PDF