Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia

Abstract

Galactosaemia due to galactose-1-phosphate uridyltransferase deficiency is a rare disease (1:40,000). Nationwide newborn screening for galactosaemia is performed in many countries; however, several countries do not screen for galactosaemia due to early manifestation of clinical symptoms and low incidence of the disease. In a German retrospective study, 148 galactosaemic patients born between 1955 and 1995, were evaluated. At least in Germany, newborn screening for galactosaemia, performed at day 5, was able to reduce or prevent the acute morbidity and mortality of the disease. The results should be even better if newborn screening takes place at day 3 using combined substrate screening and enzymatic testing for galactose-1-phosphate-uridyltransferase deficiency. Newborn screening for classical galactosaemia does not change the long-term complications of the disease such as speech disorders, mental retardation, ataxia and in females hypergonadotropic hypogonadism.