Inborn Metabolic Diseases: Diagnosis and Treatment

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Being up to Date: Status Quo and Trends of Treatment For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and ...

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Overview

Being up to Date: Status Quo and Trends of Treatment For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated.
What's new
- Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations
- Numerous updates on diagnostic procedures and treatment
- Newly discovered disorders.
As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.

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Editorial Reviews

Doody's Review Service
Reviewer: Hans Christoph Andersson, MD (Tulane University School of Medicine)
Description: This clearly written update on a highly complex group of inherited metabolic disorders describes childhood-onset and adult-onset inherited conditions. The previous edition was published in 2006.
Purpose: The book addresses the clinical presentation and diagnostic approach to the broad array of inborn errors of metabolism. Introductory chapters offer approaches to metabolic disease diagnosis based on clinical presentations, and the ensuing chapters describe the groups of diseases in detail. This is a very useful approach for clinicians with an unusually presenting patient, but the book also provides comprehensive reviews by experts in the field for readers who have a focused interest in a specific category of metabolic disease.
Audience: As it describes conditions which are vexing for many specialists, the book is most useful for pediatric subspecialists (e.g., clinical geneticists, neurologists), although it covers adult-onset metabolic diseases as well. With universal newborn screening for at least 30 metabolic conditions, it also offers general pediatricians an excellent reference for the evaluation and emergent management of children who have abnormal newborn screens.
Features: The introductory chapters compare and contrast the clinical features and diagnostic evaluations of the metabolic diseases. The overview of these complex conditions offers an excellent set of diagnostic paradigms, often in tables or useful graphics, to guide readers. One chapter is devoted to emergent management of patients presenting with metabolic derangements. The subsequent sections describe individual groups of disorders (e.g., mitochondrial energy metabolism disorders, amino acid metabolism and transport disorders) with an emphasis on clinical presentation, diagnostic approach, and therapy. While the conditions it describes are biochemical in nature, the book is clinically oriented and highly practical while offering the basic metabolic background. This balance is excellent for practicing physicians. The book is rife with tables and figures. An appendix lists the vast majority of unusual medications used in treatment of metabolic diseases. While not a shortcoming, the book is written by a large group of mostly European specialists and some treatment approaches and terms reflect a European orientation.
Assessment: This is an outstanding book about the complex and mostly newly described field of clinical biochemical genetics. This fifth edition offers the most current overview of a rapidly evolving specialty which has relevance to all areas of medical practice. Clinicians and students without a strong background in genetics or biochemistry will feel confident in their diagnosis and therapy of patients with metabolic diseases based on the concise and complete descriptions offered here.
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Product Details

  • ISBN-13: 9783642157196
  • Publisher: Springer Berlin Heidelberg
  • Publication date: 1/20/2012
  • Edition description: 5th ed. 2012
  • Edition number: 5
  • Pages: 660
  • Product dimensions: 8.00 (w) x 10.50 (h) x 1.50 (d)

Meet the Author

Professor Jean-Marie Saudubray, M.D., Director of the Metabolic/Diabetes Unit, Dep. of Pediatrics, Hopital Necker Enfants Malades, Paris, France

Professor Georges van den Berghe, Professor, Metabolic Research Group, University of Louvain Medical School, Brussels, Belgium

Dr. John H. Walter, Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, Great Britain

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Table of Contents

Part I: Diagnosis and Treatment: General Principles: Classification and clinical Approach to Inherited Metabolic Diseases in Pediatrics.- Clinical approach to Inherited Metabolic Diseases in Adulthood.- Newborn Screening for Inborn Errors of Metabolism.- Diagnostic Procedures and Postmortem Prool.- Emergency Treatments.- Part II: Disorders of Carbohydrate Metabolism: Glycogen-Storage Diseases and Related Disorders.- Disorders of Galactose Metabolism.- Disorders of the Pentose Phosphate Pathway.- Disorders of Fructose Metabolism.- Persistent Hyperinsulinemic Hypoglycemia.- Disorders of Glucose Transport.- Part III: Disorders of Mihondrial Energy Metabolism: Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- Disorders of Mihondrial Fatty Acid Oxidation and Related Metabolic Pathways.- Disorders of Ketogenesis and Ketolysis.- Defects of the Respiratory Chain.- Creatine Deficiency Syndromes.- Part IV: Disorders of Amino Acid Metabolism and Transport: Hyperphenylalaninaemias.- Disorders of Tyrosine Metabolism.- Branched-Chain Organic Acidurias/Acidemias.- Disorders of the Urea Cycle and Related Enzymes.- Disorders of Sulfur Amino Acid Metabolism.- Disorders of Ornithine Metabolism.- Cerebral Organic Acid Disorders and other Disorders of Lysine Catabolism.- Nonketotic Hyperglycinemia (Glycine Encephalopathy).- Disorders of Proline and Serine Metabolism.- Transport Defects of Amino Acids at the Cell Membrane.- Part V: Vitamin-Responsive Disorders: Biotin-Responsive Multiple Carboxylase Deficiency.- Disorders of Cobalamin and Folate Transport and Metabolism.- Part VI: Neurotransmitter and Small Peptide Disorders: Disorders of Neurotransmission.- Disorders in the Metabolism of Glutathione and Imidazole Dipeptides.- Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency.- Part VII: Disorders of Lipid and Bile Acid Metabolism: Dyslipidemias.- Disorders of Cholesterol Synthesis.- Disorders of Bile Acid Synthesis.- Part VIII: Disorders of Nucleic Acid and Heme Metabolism: Disorders of Purine and Pyrimidine Metabolism.- Disorders of Heme Biosynthesis.- Part IX: Disorders of Metal Transport: Disorders in the Transport of Copper, Zinc and Magnesium.- Part X: Organelle-Related Disorders: Lysosomes, Peroxysomes, and Golgi and Pre-Golgi Systems: Disorders of Sphingolipid Metabolism and Ceroid lipofuscinosis.- Pompe Disease, Mucopolysaccharidoses, and Oligosacharidoses.- Peroxisomal Disorders.- Congenital Disorders of Glycosylation.- Cystinosis.

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