Galactosaemia − Should It Be Screened in Newborns?

Abstract

Classical galactosaemia (CG) is a disorder of galactose metabolism which results from a de!ciency of galactose-1 phosphate uridyltransferase (GALT, EC 2.7.7.12) activity caused by mutations in the GALT gene (NM_000155.3). Patients have absent or barely detectable GALT enzyme activity and present in the !rst weeks of life with life threatening illness (feeding di"culties, liver failure, sepsis, cataract) a#er the ingestion of galactose from breast milk or infant formula. A lactose-free and galactose-restricted diet is life saving and the only available treatment at this time [1]. Newborn screening for CG by measuring GALT enzyme activity [2] was introduced in the 1960s with the expectation that early diagnosis and dietary treatment would prevent severe illness in the newborn period and that patients would have a normal outcome. However, since 1982 long-term complications have been reported in the literature. At this time it is clear that, in spite of an early diagnosis and immediate start of treatment, many CG patients su$er from long-term complications a$ecting their quality of life, such as impaired cognitive abilities, language and speech defects, neurological complications, and hypergonadotropic hypogonadism in females [3-9]. %e most probable cause of these long-term complications is the persistent elevation of metabolites due to the endogenous production of galactose [10]. %e fact that long-term complications are not prevented recurrently brings up the dilemma whether galactosaemia should be screened in newborns.