Emergency diagnostic procedures and emergency treatment

Metabolic emergencies need to be recognized early, and the initiation of appropriate treatment without any delay determines the overall outcome. A significant proportion of patients with inborn errors of metabolism are at risk of developing a metabolic emergency at some time of their life, particularly those children affected by an inborn error of metabolism that manifests as an acute intoxication. These patients usually present as a neonate – typically after an initial symptom-free interval of some days – in an emergency situation. Treatment needs to be initiated immediately even without having arrived at the exact diagnosis.