A Case of Galactosaemia with Special Reference to Mental Development

Galactosaemia was originally described by von Reuss in 1908 and since then a number of cases have been reported.From a study of these a fairly characteristic picture is presented, the most constant features being failure to thrive, hepatomegaly, galactosua and albuminuria.Other less constant features are mental retardation, jaundice, vomiting, cataract, pyrexia, diarrhoea and a tendency to bleed.From a description of reported cases the disease appears to vary considerably in its severity.Some patients die in early infancy and, judging from retrospective studies, perhaps some die undiagnosed.