Guida essenziale alla gestione nutrizionale nello scompenso metabolico acuto in Pediatria

Background - Inherited metabolic diseases (IMDs) are a heterogeneous group of rare disorders in which nutritional management is the cornerstone of therapy, both in chronic and acute phases. In cases of acute metabolic decompensation, the timely implementation of an emergency dietary regimen is crucial to prevent severe complications and permanent neurological damage. Objectives - To provide non-specialist paediatricians with a practical reference on common principles and key nutritional strategies to be adopted in the acute management of IMDs, with specific adaptations according to the underlying disorder. Materials and Methods - Narrative review based on international guidelines, reference textbooks and representative clinical cases (fatty acid β-oxidation defect and type 1 citrullinemia) aimed to illustrate both standardised and individualised nutritional approaches. Results - According to the disorder, common general principles were identified and included: ensuring adequate energy intake, preventing prolonged fasting and temporarily limiting protein or lipid intake. The home-based “emergency regimen,” based on maltodextrin solutions with concentrations and volumes adjusted according to age, is a key tool for reducing hospitalisation risk and improving outcomes. In acute phases, temporary protein suspension with gradual reintroduction is indicated for urea cycle defects and organic acidurias, while specific lipid restriction and reduction of fasting periods are recommended for fatty acid β-oxidation defects. The clinical cases show how targeted nutritional intervention can lead to rapid clinical and metabolic improvement. Conclusions - The knowledge and prompt application of the emergency diet along with specific nutritional adaptations are essential for managing metabolic crises in paediatric patients. The adoption of standardised protocols, combined with the training of primary care paediatricians, can significantly reduce morbidity and long-term complications in patients with IMDs.