METABOLIC DISEASES IN NEONATES: ADVANCES IN SCREENING AND BEST MANAGEMENT PRACTICES

Abstract

This article aims to review the current medical literature on the advances in neonatal screening and management practices for metabolic diseases in newborns, identifying the most recent technologies and the most effective therapeutic interventions to improve health outcomes in this population. Google Scholar, Scopus, and Web of Science were used as search engines, with articles selected based on specific criteria, such as publications from the last 20 years and relevance to the topic, using the terms "neonatal metabolic diseases," "neonatal screening," "technological advances," "management of metabolic diseases," and "therapeutic interventions." The results indicate that the introduction of advanced technologies, such as tandem mass spectrometry (MS/MS), has expanded the scope of neonatal screening programs, allowing for the early detection of an increasing number of metabolic diseases. Moreover, new therapeutic approaches, including enzyme replacement therapies and specific pharmacological treatments, have shown substantial benefits in managing these conditions. However, challenges remain, such as genetic variability across populations, high screening and treatment costs, and the need for standardized clinical management protocols. This review highlights the importance of the continuous development of more accessible screening technologies and the harmonization of neonatal screening policies globally to ensure better health outcomes for affected newborns.