Pediatric Genetics, An Issue of Pediatric Clinics of North America

This volume provides a comprehensive update on the clinical management of inborn errors of metabolism, bringing together contributions from leading experts in the field. It presents a structured approach to understanding these diverse disorders, linking pathophysiology with clinical presentation, diagnostic strategies, and management. The book emphasizes practical guidance for clinicians while highlighting advances in newborn screening, early detection, and treatment options, making it an essential resource for pediatricians, metabolic specialists, geneticists, and other healthcare professionals involved in the care of affected children.

Key Features:

• Thorough overview of inborn errors of metabolism, including pathophysiology, manifestations, evaluation, and management.
• Organized by specific clinical presentations, including acidosis, hyperammonemia, hypoglycemia, myopathy, seizures, hepatopathy, cognitive impairment, movement disorders, complex molecules, and complex phenotypes.
• Detailed discussion of metabolic disorders such as organic acidemias, urea cycle defects, glycogen storage diseases, fatty acid oxidation defects, lysosomal and peroxisomal storage diseases, mitochondrial disorders, and congenital disorders of glycosylation.
• Focus on practical clinical management, integrating diagnostic approaches with therapeutic strategies.
• Includes comprehensive coverage of newborn screening, with historical context, current practices, and future directions.
• Expert-authored chapters provide authoritative, evidence-based guidance suitable for clinicians, trainees, and researchers.