Classical galactosaemia is caused by deficient galactose-1-phosphate uridyl transferase activity, and is treated by dietary galactose restriction. Despite dietary treatment, long-term outcomes have not been uniformly favourable. Late complications may include speech abnormalities, ataxia, cognitive
In a retrospective study 134 galactosaemic patients, born between 1955 and 1989 in the Federal Republic of Germany were traced and their long-term outcome evaluated. We investigated 83 galactosaemic patients (78 homozygotes, 5 compound heterozygotes) by clinical, psychometric and laboratory testing;