Inborn Errors of Metabolism: Screening & Disease Overview

This presentation delves into inborn errors of metabolism, highlighting their genetic basis, impact on neonatal health, and the importance of early detection through newborn screening. It addresses misconceptions about metabolic disorders, outlines current screening practices, including tandem mass spectrometry, and showcases case studies demonstrating the effectiveness of modern diagnostic approaches. Emphasis is placed on the role of healthcare teams, particularly in paediatric care, to...