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 Hôpital La Pitié Salpétrière from the Université 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.

Reviews

“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 Mütze, Journal of Inherited Metabolic Disease, Vol. 40, 2017)