Inborn Errors of Metabolism, An Issue of Pediatric Clinics of North America

This issue brings together expert authors to deliver an up-to-date, clinically focused review of inborn errors of metabolism (IEMs), a complex and rapidly evolving area of pediatric medicine. Designed for practicing clinicians, the volume integrates pathophysiology with practical diagnostic and management strategies, emphasizing phenotype-driven evaluation and timely intervention. Through clear, structured reviews, it supports clinicians in recognizing metabolic disorders across diverse presentations—from acute metabolic crises to chronic neurodevelopmental conditions—while highlighting the critical role of newborn screening.

Key Features:

• Comprehensive overview of IEM pathophysiology, clinical manifestations, evaluation, and management
• Phenotype-based reviews covering IEMs presenting with acidosis, hyperammonemia, hypoglycemia, myopathy, seizures, hepatopathy, cognitive impairment, and movement disorders
• Dedicated chapters on organic acidemias, urea cycle defects, fatty acid oxidation disorders, glycogen storage diseases, amino acid and neurotransmitter disorders
• In-depth coverage of lysosomal and peroxisomal storage diseases, mitochondrial disorders, and congenital disorders of glycosylation
• Practical guidance on diagnostic approaches and treatment strategies tailored to specific metabolic presentations
• Comprehensive review of newborn screening, including its history, current practices, and future directions
• Evidence-based, clinically relevant content designed to support early recognition, accurate diagnosis, and optimal management of IEMs