Galactosemia is an ininate metabolic disorder caused by deficient activity in one of the enzymes involved in galactose metabolism. The newborn appears to be born in good health, having a window of opportunity before developing important morbidities that can even be fatal after ingestion of milk containing galactose. Find out now the importance of neonatal screening for galactosemia
Importance of diagnosis
Galactosemia is a rare and nonspecific disease, thus requiring strong clinical suspicion for investigation and diagnosis. It is now possible to diagnose and treat patients considerably earlier than before, thanks to the availability of neonatal screening for galactosemia.
Neonatal screening is especially necessary to detect classical galactosemia. If the diagnosis is not established immediately after birth, to consequently restrict the sources of galactose from the diet, lesions in organs such as liver, kidneys and brain become highly severe and irreversible, sometimes even fatal.
Early diagnosis and treatment in galactosemia increase the chance of a better prognosis, while untreated infants and children suffer major health consequences, such as intellectual disability, behavioral problems, poor growth, poor development, nutritional deficiencies, and sequelae that require advanced hospital care.
The implementation of a screening program for galactosemia in newborns varies from country to country and should take into account a variety of factors related to early diagnosis, such as the immediate introduction of dietotherapy, but also the cost-benefit ratio of this screening.
Clinical practice
Galactosemia has no cure, but its negative health consequences can be avoided with early diagnosis and treatment. All foods containing galactose should be eliminated from the diet when galactosemia is suspected. Neonatal screening for galactosemia may predispose to early diagnosis and intervention, preventing complications.
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Article: Galactosemia
– Badiu Tișa I, Achim AC, Cozma-Petruư A. The Importance of Neonatal Screening for Galactosemia. Nutrients
. 2023; 15(1):10. https://doi.org/10.3390/nu15010010
