Inborn Metabolic Diseases: Diagnosis and Treatment

by John Fernandes (Editor), Jean-Marie Saudubray (Editor), Georges van den Berghe (Editor)

Overview

Five years have passed since the second edition of With respect to the contents of the book, most chapters have been rewritten or extensively revised. A Inborn Metabolic Diseases; Diagnosis and Treatment was published. The third edition, now being presented, few chapters from the second edition have been deleted, since their contents are discussed in other has been thoroughly updated and revised. Again, the clinical presentation, the methods to arrive at the chapters of the present edition. A few new chapters diagnosis and the treatment of the patient have have been introduced, such as a general chapter on remained the focus of the book, that for a large part treatment, which gives a comprehensive list of present has been written by clinicians for clinicians. The scope treatments and new trends, a chapter on persistent of the readership has enlarged: from the original teams hyperinsulinemic hypoglycemia, a combined chapter of pediatricians, biochemists and dieticians it now also on disorders of ketogenesis and ketolysis, a chapter on disorders of proline and serine metabolism, a chapter encompasses neurologists, internists, geneticists and psychosocial workers. This reflects the fact that for on disorders of cholesterol synthesis, and a chapter on many inborn metabolic diseases the survival of the defective leukotriene synthesis. For more detailed patients and their quality of life have improved.

Product Details

ISBN-13:	9783662042854
Publisher:	Springer-Verlag New York, LLC
Publication date:	03/14/2013
Sold by:	Barnes & Noble
Format:	eBook
File size:	16 MB
Note:	This product may take a few minutes to download.

Table of Contents

I Diagnosis and Treatment: General Principles.- 1. Clinical Approach to Inherited Metabolic Diseases.- 2. Diagnostic Procedures: Function Tests and Postmortem Protocol.- 3. Emergency Treatments.- 4. Psychosocial Care of the Child and Family.- 5. Treatment: Present Status and New Trends.- Il Disorders of Carbohydrate Metabolism.- 6. The Glycogen-Storage Diseases.- 7. Disorders of Galactose Metabolism.- 8. Disorders of Fructose Metabolism.- 9. Persistent Hyperinsulinemic Hypoglycemia.- Ill Disorders of Mitochondrial Energy Metabolism.- 10. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- 11. Disorders of Fatty Acid Oxidation.- 12. Disorders of Ketogenesis and Ketolysis.- 13. Defects of the Respiratory Chain.- IV Disorders of Amino Acid Metabolism and Transport.- 14. The Hyperphenylalaninaemias.- 15. Disorders of Tyrosine Metabolism.- 16. Branched-Chain Organic Acidurias.- 17. Disorders of the Urea Cycle.- 18. Disorders of Sulfur Amino Acid Metabolism.- 19. Disorders of Ornithine and Creatine Metabolism.- 20. Disorders of Lysine Catabolism and Related Cerebral Organic-Acid Disorders.- 21. Nonketotic Hyperglycinemia.- 22. Disorders of Proline and Serine Metabolism.- 23. Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance.- V Vitamin-Responsive Disorders.- 24. Biotin-Responsive Multiple Carboxylase Deficiency.- 25. Disorders of Cobalamin and Folate Transport and Metabolism.- VI Neurotransmitter and Small Peptide Disorders.- 26. Disorders of Neurotransmission.- 27. Disorders in the Metabolism of Glutathione and Imidazole Dipeptides.- VII Disorders of Lipid and Bile Acid Metabolism.- 28. Dyslipidemias.- 29. Disorders of Cholesterol Synthesis.- 30. Disorders of Bile-Acid Synthesis.- VIII Disorders of Nucleic Acid and Heme Metabolism.- 31. Disorders of Purine and Pyrimidine Metabolism.- 32. The Porphyrias.- IX Disorders of Metal Transport.- 33. Copper Transport Disorders: Wilson Disease and Menkes Disease.- 34. Genetic Defects Related to Metals Other Than Copper.- X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems.- 35. Disorders of Sphingolipid Metabolism.- 36. Mucopolysaccharidoses and Oligosaccharidoses.- 37. Peroxisomal Disorders.- 38. Congenital Defects of Glycosylation: Disorders of N-Glycan Synthesis.- 39. Cystinosis.- 40. Primary Hyperoxalurias.- 41. Leukotriene-C4-Synthesis Deficiency.

Editorial Reviews

Reviewer: Jay P. Goldsmith, MD (Tulane University School of Medicine)
Description: This is a clinical overview of the diagnosis and treatment of inborn errors of metabolism (IEM). It is aimed at the practicing clinician who is faced with trying to diagnose these very rare disorders and is particularly useful when the diagnosis is not known. This fourth edition updates the edition published in 2000, and includes a discussion of such new techniques as tandem mass spectrometry (TMS).
Purpose: The book can be used in two main ways. The first section uses algorithms and tables to guide the clinician based on symptoms or signs when the diagnosis is not known. The rest of the book covers specific diagnostic procedures, treatments, and discussions of specific disorders presented in a uniform format when the diagnosis is known or suspected. For the practicing non-geneticist or non-metabolic specialist, this is an extremely valuable resource because these diseases are so rare and difficult to diagnose and manage.
Audience: This is a guide for clinicians involved in the treatment of children and adults with inborn errors of metabolism. It may not be detailed enough for the metabolic or genetic specialist, but this simplified approach to these varied and rare diseases will be invaluable to the resident physician or clinician faced with a difficult diagnostic problem. The authors and editors, mostly European, are known authorities in the field.
Features: The book's first chapter on the diagnostic approach to patients who may have inborn errors of metabolism is the best review I have ever read on this subject. The algorithms and tables in this chapter are a wonderful roadmap to help make a clinical diagnosis of a very rare disease. It is must reading for neonatologists who are frequently presented with symptoms in their patients that might lead to a diagnosis of IEM. Other sections deal with diagnostic procedures, treatments and new trends. The rest of the book discusses individual diseases categorized by the type of disorder (carbohydrate, amino acid, mitochondrial, lipid, etc.). Because the book is so comprehensive and the diseases so varied, the detailed discussion of each disease is somewhat limited.
Assessment: This is a wonderful resource and a must-have addition to the library of any physician who is confronted with the clinical dilemma of trying to diagnose an IEM. These diseases, because of their varied presentations and rarity, are often missed and this book will help clinicians make a diagnosis earlier. The diagnostic approach is unique and chapter 1 should be required reading for neonatal fellows before taking their boards. The book is not as detailed in certain aspects of individual diseases and specialists in this field will probably find The Metabolic and Molecular Bases of Inherited Disease, 8th edition, by Scriver et al. (McGraw-Hill, 2001) more helpful to them for information on the pathophysiology and genetics of these diseases.

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