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Inborn Metabolic Diseases

This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications - Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles - Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.
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Table of Contents

Section I Diagnosis and Treatment: General Principles 1 Clinical Approach to Inborn Errors of Metabolism.- 2 Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations.- 3 Diagnostic Procedures: Functional Tests and Post-mortem Protocol.- 4 Emergency Treatments Section II Disorders of Carbohydrate Metabolism 5 The Glycogen Storage Diseases and Related Disorders.- 6 Disorders of Galactose Metabolism.- 7 Disorders of Glycolysis and the Pentose Phosphate Pathway.- 8 Disorders of Fructose Metabolism.- 9 Persistent Hyperinsulinaemic Hypoglycaemia.- 10 Disorders of Glucose Transport Section III Disorders of Mitochondrial Energy Metabolism 11 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- 12 Disorders of Mitochondrial Fatty Acid Oxidation.- 13 Disorders of Ketogenesis and Ketolysis.- 14 Disorders of the Respiratory Chain.- 15 Creatine Deficiency Syndromes

About the Author

Jean-Marie Saudubray, M.D., is Emeritus Professor of Pediatrics and Expert Metabolic Consultant at the adult neuro-metabolic unit in the Hopital La Pitie Salpetriere from the Universite Pierre et Marie Curie, Paris. Matthias R. Baumgartner, M.D., Professor of Paediatrics and Inherited Metabolic Medicine, University of Zurich, is Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children's Hospital, Zurich. John Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Manchester Academic Health Science Centre, Willink Unit, Manchester.


"Inborn Metabolic Diseases: Diagnosis and Treatment remains one of the standard textbooks for professionals working in inborn metabolic medicine and biochemical genetics. ... Inborn Metabolic Diseases: Diagnosis and Treatment gives an excellent and most up to date overview and deep insight on a rapidly evolving specialty with a steadily growing number of patients, most of them now growing-up and reaching adulthood, and is, therefore, informative for experts as well as for those who seek to become one." (Ulrike Mutze, Journal of Inherited Metabolic Disease, Vol. 40, 2017)

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