CHAPTER 94 INBORN ERRORS OF METABOLISM

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This presentation explores inborn errors of metabolism in neonates, addressing challenges in diagnosis, screening, and management. Topics include the importance of newborn screening programmes, advancements in detection technologies, and strategies for interpreting results. Emphasis is placed on proactive care, early recognition, and treatment of disorders such as amino acid metabolism abnormalities, urea cycle disorders, and organic acidemias. The role of specialists, parental education, and...