Inborn Metabolic Diseases: Diagnosis and Treatment, 7th Edition (2022) by Jean-Marie Saudubray et al.

Overview

Inborn Metabolic Diseases: Diagnosis and Treatment, 7th Edition, is a cornerstone textbook in the field. Authored by Jean-Marie Saudubray and a team of international experts, this edition reflects a major shift in understanding these diseases. It expands the definition to encompass disorders with abnormal molecular machinery, even if no metabolic markers are currently measurable. The book provides a comprehensive approach to diagnosis and management for professionals involved in caring for patients with inborn metabolic diseases (IMDs).

Key Themes

• Evolving Definition of IMDs: The book acknowledges the recent revolution in understanding IMDs, incorporating disturbances in molecular machinery alongside traditionally defined metabolic disorders.
• Clinical and Biochemical Approach: It emphasizes both clinical presentations and biochemical testing for effective diagnosis and management of IMDs.
• Focus on Neurological Presentations: Recognizing the frequent neurological complications of IMDs, the book offers dedicated sections on diagnosis and management in this context.

Features

• Two New Chapters: This edition includes new chapters comprehensively detailing around 600 disorders affecting nucleic acid metabolism, tRNA function, ribosomal biogenesis, and cellular trafficking.
• Diagnostic Algorithms: The book incorporates numerous diagnostic algorithms for patients of all ages, facilitating differential diagnosis and appropriate treatment plans.
• International Editorial Team: A team of leading experts from around the world contributes their knowledge and experience, providing a global perspective on IMDs.
• Separate Pathophysiological Categories: IMDs are classified into three major pathophysiological categories: disorders of energy metabolism, small molecule disorders, and complex molecule disorders, allowing for focused study based on specific disease types.

Target Audience

This book is a valuable resource for a wide range of healthcare professionals involved in the diagnosis and management of IMDs, including:

• Pediatricians
• Geneticists
• Metabolic specialists
• Neurologists
• Clinical biochemists
• Dieticians
• Genetic counselors

Strengths

• Up-to-date and comprehensive coverage of the evolving field of IMDs.
• Integration of clinical and biochemical approaches for effective patient care.
• Specific focus on neurological presentations, a common challenge in IMDs.
• Inclusion of diagnostic algorithms and practical guidance for clinicians.
• Expertise from a global team of leading authorities in the field.

Chapter Headlines (Some Examples)

• General Aspects of Inborn Metabolic Diseases
• Disorders of Energy Metabolism
• Disorders of Amino Acid Metabolism
• Disorders of Carbohydrate Metabolism
• Disorders of Fatty Acid Metabolism
• Disorders of Purine and Pyrimidine Metabolism
• (and many more based on specific disorders and pathophysiology)

Closing Paragraph

Inborn Metabolic Diseases: Diagnosis and Treatment, 7th Edition, remains an essential reference for healthcare professionals seeking to improve the diagnosis, management, and overall care of patients with these complex and often-challenging conditions. By providing a comprehensive and current overview, the book empowers clinicians to deliver optimal care and improve patient outcomes.