Clinical aspects of galactosaemia

Classical galactosaemia (transferase deficiency) is a relatively rare metabolic disorder, which is important to the paediatrician as a model for the interdisciplinary approach to the treatment of children with inborn errors of metabolism. Early diagnosis and prompt treatment with a galactose-free diet can lead to excellent immediate results and a favourable long term prognosis. Mass neonatal screening constitutes an essential first step in reducing mortality and morbidity among galactosaemic children.