Galactosemia is an inborn metabolic disorder caused by a deficient activity in one of the
enzymes involved in the metabolism of
galactose. The first description of
galactosemia in newborns dates from 1908, ever since complex research has been performed on cell and animal models to gain more insights into the molecular and clinical bases of this challenging disease. In
galactosemia, the newborn appears to be born in proper health, having a window of opportunity before developing major morbidities that may even be fatal following ingestion of milk that contains
galactose.
Galactosemia cannot be cured, but its negative consequences on health can be avoided by establishing precocious diagnosis and treatment. All the foods that contain
galactose should be eliminated from the diet when there is a suspicion of
galactosemia. The neonatal screening for
galactosemia can urge early diagnosis and intervention, preventing complications. All
galactosemia types may be detected during the screening of newborns for this disorder. The major target is, however,
galactose-1-phosphate uridyltransferase (
GALT) deficiency galactosemia, which is diagnosed by applying a combination of total
galactose and GALT
enzyme analysis as well as, in certain programs, mutation screening. Most critically, infants who exhibit symptoms suggestive of
galactosemia should undergo in-depth testing for this condition even when the newborn screening shows normal results. The decision to enroll global screening for
galactosemia among the specific population still faces many challenges. In this context, the present narrative review provides an updated overview of the incidence, clinical manifestations, diagnosis,
therapy, and prognosis of
galactosemia, questioning under the dome of these aspects related to the disease the value of its neonatal monitoring.