Galactosaemia: Results of the British paediatric surveillance unit study, 1988-90

Abstract

Ascertainment of cases of classical galactosaemia over a three year period in the UK and the Republic of Ireland, through the British Paediatric Surveillance Unit, identified 58 proved cases and two in whom the diagnosis was strongly suspected. One patient died at 4 days, and severe morbidity was no more frequent in babies diagnosed clinically because of their symptoms compared with those who were screened for galactosaemia. Treatment of four babies in the nonscreened group was delayed until after 5 weeks of age, but it is concluded that all cases of galactosaemia could be diagnosed in an acceptable time without screening, providing clinical vigilance is maintained.