Inborn Errors of Metabolism comprise a diverse group of genetic disorders that can present in the newborn period, later childhood, or even adolescence with life-threatening crises or subtle developmental issues. This session on Inborn Errors of Metabolism explores how to recognise, diagnose, and manage these conditions, and how to support families navigating complex treatment regimens and long-term uncertainty. Participants will examine patterns of presentation, from acute encephalopathy and metabolic acidosis to failure to thrive, recurrent vomiting, or unexplained developmental delay.

Clinicians attending Pediatrics Conference often want practical frameworks that make this complex field more approachable. In this session, you will review key metabolic pathways and how their disruption leads to characteristic clinical and biochemical profiles. The content will cover initial emergency management for suspected metabolic crises—including stabilisation, toxin removal strategies, and avoidance of catabolism—as well as longer-term dietary, pharmacological, and transplant options. Emphasis is placed on when to suspect a metabolic disorder and how to initiate appropriate investigations quickly.

A core focus is building structured pediatric metabolic care pathways that connect newborn screening, diagnostic laboratories, metabolic specialists, intensive care, and community follow-up. Participants will discuss the role of newborn screening programmes, confirmatory testing, and genetic counselling, as well as how to manage children who present outside the newborn period. Case examples will illustrate day-to-day management of conditions such as urea cycle disorders, organic acidemias, fatty acid oxidation defects, and lysosomal storage disorders.

The session will also address psychosocial, ethical, and global issues. Attendees will consider the emotional impact on families of caring for a child with a rare, often invisible condition; challenges around diet adherence and emergency regimens; and difficult decisions about intensive interventions in severe cases. Equity of access to diagnostics, specialised diets, medications, and transplantation across different countries and health systems will be explored. By the end, participants will feel more confident in recognising metabolic red flags, initiating emergency care, and collaborating with specialised centres.