Galactosemia is commonly diagnosed through newborn screening programs, which test for elevated levels of galactose in the blood. A definitive diagnosis is made by measuring the activity of the GALT enzyme or by genetic testing for known mutations. Management of galactosemia involves a strict dietary restriction of galactose, which includes eliminating lactose-containing foods from the diet. Early and consistent dietary management can help mitigate the toxic effects and prevent further complications.
