Inborn Metabolic Diseases: Diagnosis and Treatment (7th Edition)

Edited by Jean-Marie Saudubray, Matthias R. Baumgartner & John Walter

Inborn Metabolic Diseases: Diagnosis and Treatment, Seventh Edition, is the definitive clinical reference on inherited metabolic disorders. Published by Springer, this landmark text provides a comprehensive, clinically oriented approach to the diagnosis, management, and treatment of inborn errors of metabolism across the lifespan.

Widely regarded as the gold standard in metabolic medicine, the book integrates biochemical pathways, molecular genetics, clinical presentation, diagnostic algorithms, and therapeutic strategies. The 7th Edition reflects major advances in genomics, newborn screening, targeted therapies, and precision medicine.

What This Book Does

This book equips clinicians with practical tools to recognize, diagnose, and manage inborn metabolic diseases, supporting early intervention and improved patient outcomes.

Key Features of the 7th Edition

• Comprehensive coverage of inborn errors of metabolism
• Clear diagnostic algorithms and clinical decision pathways
• Integration of biochemical, molecular, and genomic approaches
• Updated therapies including enzyme replacement and gene-based treatments
• Essential reference for metabolic emergencies and long-term management

Who Should Use This Book?

• Metabolic medicine specialists
• Clinical geneticists and pediatricians
• Neonatologists and intensivists
• Medical residents and fellows
• Hospitals and academic medical libraries

Why It’s Essential

• Authoritative global reference in metabolic medicine
• Bridges bench science with bedside care
• Supports early diagnosis and lifesaving interventions
• Trusted worldwide in clinical practice and training

The definitive guide to diagnosing and treating inborn metabolic diseases.
Order today from BooksGoat and strengthen your metabolic medicine expertise.

Product Details

• ISBN-13: 9783662631225
• Edition: 7th
• Editors: Jean-Marie Saudubray; Matthias R. Baumgartner; John Walter
• Publisher: Springer
• Format: Hardcover
• Condition: New
• Availability: In Stock
• Price: $— (Free Shipping)

Table of Contents (Highlights)

• Principles of Metabolic Disease Diagnosis
• Disorders of Amino Acid and Organic Acid Metabolism
• Fatty Acid Oxidation and Mitochondrial Disorders
• Lysosomal and Peroxisomal Diseases
• Newborn Screening and Early Detection
• Acute Metabolic Emergencies

FAQs

• Is this suitable for clinical practice?
  Yes. It is a core reference used in day-to-day metabolic medicine.
• Does it include newborn screening?
  Yes. Newborn screening and early diagnosis are extensively covered.
• Is it updated with modern therapies?
  Yes. The 7th Edition includes advances in enzyme replacement and gene-based treatments.