Galactose-1-Phosphate Uridyltransferase Deficiency

Galactose-1-phosphate uridyltransferase deficiency, known as classic galactosemia, is a hereditary metabolic disorder in which the body cannot properly process galactose, a sugar present in milk.

Why it happens: the lack of this enzyme prevents galactose from being transformed, so it builds up and can affect various organs from the first days of life.

Signs that may be noticed: feeding difficulties, vomiting, jaundice, and poor weight gain in the baby.

Which specialist handles it? The pediatrician usually detects the first signs, often through the newborn screening, and the nephrologist takes part if there is kidney involvement. If a newborn shows these signs, it is important to have them assessed promptly by the pediatrician to receive appropriate guidance.