Inborn Metabolic Diseases

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.

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

16 Hyperphenylalaninaemia.- 17 Disorders of Tyrosine Metabolism.- 18 Branched-chain Organic Acidurias/Acidaemias.- 19 Disorders of the Urea Cycle and Related Enzymes.- 20 Disorders of Sulfur Amino Acid Metabolism.- 21 Disorders of Ornithine and Proline Metabolism.- 22 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism.- 23 Nonketotic Hyperglycinaemia (Glycine Encephalopathy).- 24 Disorders of Amino Acid Synthesis: Glutamine, Serine and Asparagine.- 25 Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder

Section V Vitamin-Responsive Disorders

26 Biotin-responsive Disorders.- 27 Disorders of Cobalamin and Folate Transport and Metabolism.- 28 Disorders of Thiamine and Pyridoxine Transport and Metabolism

29 Disorders of Neurotransmission.- 30 Trimethylaminuria, Dimethylglycine Dehydrogenase Deficiency and Disorders in the Metabolism of Glutathione

Section VII Disorders of Lipid and Bile Acid Metabolism

31 Inborn Errors of Lipoprotein Metabolism Presenting in Childhood.- 32 Disorders of Cholesterol Synthesis.- 33 Disorders of Bile Acid Synthesis.- 34 Disorders of Phospholipid and Triglyceride Metabolism

Section VIII Disorders of Nucleic and Heme Metabolism

35 Disorders of Purine and Pyrimidine Metabolism.- 36 Disorders of Haem Biosynthesis

Section IX Disorders of Metal Transport

37 Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc

Section X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems

38 Disorders of Sphingolipid Metabolism and Neuronal Ceroid-Lipofuscinoses.- 39 Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders.- 40 Disorders of Fatty Acid and Plasmalogen Metabolism Including Peroxisomal Disorders.- 41 Congenital Disorders of Glycosylation and Dolichol and GPI Metabolism.- 42 Cystinosis

Section XI Appendices

43 Medications Used in the Treatment of Inborn Errors

"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)