GALACTOSEMIA is an inborn error of carbohydrate metabolism characterized by the development of malnutrition, cirrhosis of the liver, cataracts, and mental retardation. It is due to absence of the enzyme galactose-1-phosphate uridyl transferase, an enzyme necessary for the normal metabolism of dietary galactose. Galactosemic infants treated promptly with a galactose-free diet develop normally. If, however, the diagnosis of galactosemia is delayed, permanent damage results.
In contrast to phenylketonuria, a disorder for which extensive screening programs are already under way, and are mandatory in some states, large-scale screening of infants for galactosemia has not previously been reported, although two methods employing radioactive galactose have been published and their use for screening suggested.12 The recent development of two new methods for the detection of galactose-1-phosphate uridyl transferase deficiency in whole blood has made possible for the first time direct screening for the enzyme defect at low cost and without the use
Beutler E, Irwin HR, Blumenfeld CM, Goldenburg EW, Day RW. Field Test of Galactosemia Screening Methods in Newborn Infants. JAMA. 1967;199(7):501–503. doi:10.1001/jama.1967.03120070113025
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