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 6^th 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. 

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.

1;Preface to the 6th edition;5 2;Content;6 3;List of Contributors;26 4;Section I Diagnosis and Treatment: General Principles;32 4.1;1Clinical Approach to Inborn Errors of Metabolism in Pediatrics;33 4.1.1;Classification;34 4.1.1.1;Pathophysiology;34 4.1.1.2;Clinical Presentation;35 4.1.2;Antenatal Symptoms;36 4.1.3;Neonatal and Early Infancy Presentation (<1 year);38 4.1.3.1;Clinical Presentation;38 4.1.3.2;Metabolic Derangements and Diagnostic Tests;44 4.1.4;Later Onset Acute and Recurrent Attacks (Late Infancy and Beyond);48 4.1.4.1;Clinical Presentations;48 4.1.4.2;Metabolic Derangements and Diagnostic Tests;56 4.1.5;Chronic and Progressive Neurological Symptoms (Mental Retardation , Developmental Delay , Epilepsy , Neurological Deterioration;62 4.1.5.1;Diagnostic Approach to Neurological and Mental Deterioration Related to Age;62 4.1.5.2;Specific Neurosensorial, Neuro-physiological and Neuroradiological Signs and Symptoms (at any Age);75 4.1.5.3;Recommended Laboratory Tests in Neurological Syndromes;82 4.1.6;Specific Organ Signs and Symptoms;85 4.1.6.1;Cardiology;85 4.1.6.2;Dermatology;85 4.1.6.3;Endocrinology (. Table 1.34);87 4.1.6.4;Gastroenterology and Nutritional Findings;88 4.1.6.5;Haematology;91 4.1.6.6;Hepatology;93 4.1.6.7;Immunology (see also;94 4.1.6.8;Section 1.6 Neutropenia);94 4.1.6.9;Myology;95 4.1.6.10;Nephrology (. Table 1.39);95 4.1.6.11;Neurology and Psychiatry;95 4.1.6.12;Ophthalmologic Signs;95 4.1.6.13;Orthopedy (. Table 1.42);96 4.1.6.14;Pneumology;98 4.1.6.15;Psychiatry;98 4.1.6.16;Rheumatology;98 4.1.6.17;Stomatology;99 4.1.7;References;99 4.2;2Inborn Errors of Metabolism in Adults : A Diagnostic Approach to Neurological and Psychiatric Presentations;101 4.2.1;Differences Between Paediatric and Adult Phenotypes;102 4.2.2;General Approach to IEM in Adulthood;102 4.2.2.1;Disorders of Energy Metabolism;102 4.2.2.2;Disorders of Lipid Metabolism;102 4.2.2.3;Intoxication Syndromes;105 4.2.2.4;Disorders of Neurotransmitter Metabolism;106 4.2.2.5;Metal Storage Disorders;106 4.2.3;Specific Approaches to Neuro-metabolic Presentations in Adults;106 4.2.3.1;Encephalopathies /Coma s;106 4.2.3.2;Strokes and Pseudostrokes;107 4.2.3.3;Movement Disorders;107 4.2.3.4;Peripheral Neuropathies;107 4.2.3.5;Leukoencephalopathies;109 4.2.3.6;Epilepsy;111 4.2.3.7;Psychiatric Disorders;112 4.2.3.8;Spastic Paraparesis;114 4.2.3.9;Cerebellar Ataxia;114 4.2.3.10;Myopathy;115 4.2.3.11;Others;117 4.2.4;References;119 4.3;3Diagnostic Procedures;120 4.3.1;Introduction;121 4.3.2;Basal Metabolic Investigation;121 4.3.2.1;Amino and organic acids;121 4.3.2.2;Metabolic Profile over the Course of the Day;121 4.3.3;Metabolomic Approaches :the Example of In Vitro 1H-NMRSpectroscopy of Body Fluids;129 4.3.4;Functional Tests;130 4.3.4.1;Fasting Test;130 4.3.4.2;Oral Glucose Loading Test;132 4.3.4.3;Glucagon Test;132 4.3.4.4;Protein and Allopurinol Loading Test;132 4.3.4.5;Exercise Test;133 4.3.5;Next Generation Sequencing and Gene panels;133 4.3.6;Postmortem Protocol;134 4.3.6.1;Cells and Tissues for Enzyme Assays;134 4.3.6.2;Cells and Tissues for Chromosome and DNA Investigations;134 4.3.6.3;Skin Fibroblasts;134 4.3.6.4;Body Fluids for Chemical Investigations;134 4.3.6.5;Autopsy;135 4.3.7;References;136 4.4;4Emergency Treatments;137 4.4.1;Introduction;138 4.4.2;General Principles;138 4.4.2.1;Supportive Care;138 4.4.2.2;Nutrition;138 4.4.2.3;Specific Therapies;138 4.4.2.4;Extracorporeal Procedures for Toxin Removal;138 4.4.3;Emergency Management of Particular Clinical Presentations;139 4.4.3.1;Neurological Deterioration;139 4.4.3.2;Liver Failure;142 4.4.3.3;Neonatal Hypoglycaemia;142 4.4.3.4;Cardiac Failure;143 4.4.3.5;Primary Hyperlactataemia;143 4.4.3.6;Intractable Seizures;143 4.4.4;Final Considerations;143 4.4.5;References;143 5;Section II Disorders of Carbohydrate Metabolism;146 5.1;5The Glycogen Storage Diseases and Related Disorders;147 5.1.1;Hepatic Glycogenoses;149 5.1.1.1;Liver Glycogen Storage Disease Type 0 (GSD 0a);149 5.1.1.2;