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This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.
Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.
Contents
The Editors
Jean-Marie Saudubray, M.D., Senior Editor, is Emeritus Professor of Paediatrics, Paris.
Matthias R. Baumgartner, M.D., is Professor of Paediatrics and Inherited Metabolic Diseases, University of Zurich, and Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich.
Angeles García-Cazorla MD, PhD., is Professor of Paediatric Neurology and Head of the Neurometabolic Unit and Director of Research in Neurology at Hospital Sant Joan de Déu, Barcelona.
John H. Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Developmental Biology and Medicine, School of Medical Sciences, University of Manchester.
Front Matter
Pages 1-1
Clinical Approach to Inborn Errors of Metabolism in Paediatrics
Pages 3-123
Pages 125-145
Pages 147-166
Pages 167-176
Front Matter
Pages 177-177
The Glycogen Storage Diseases and Related Disorders
Pages 179-200
Congenital Hyperinsulinism and Genetic Disorders of Insulin Resistance and Signalling
Pages 201-208
Disorders of Glycolysis and the Pentose Phosphate Pathway
Pages 209-223
Disorders of Glucose and Monocarboxylate Transporters
Pages 225-238
Disorders of Creatine Metabolism
Pages 239-245
Disorders of Oxidative Phosphorylation
Pages 247-268
Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
Pages 269-286
Disorders of Mitochondrial Fatty Acid Oxidation & Riboflavin Metabolism
Pages 287-301
Disorders of Ketogenesis and Ketolysis
Pages 303-311
Front Matter
Pages 313-314
Disorders of Galactose Metabolismdisorders
Pages 315-325
Disorders of Fructose Metabolism
Pages 327-336
Pages 337-354
Disorders of Tyrosine Metabolism
Pages 355-367
Branched-Chain Organic Acidurias/Acidaemias
Pages 369-389
Disorders of the Urea Cycle and Related Enzymes
Pages 391-405
Disorders of Sulfur Amino Acid Metabolism
Pages 407-422
Disorders of Ornithine and Proline Metabolism
Pages 423-436
Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
Pages 437-457
Nonketotic Hyperglycinaemia nonketotic and Lipoate Deficiency Disorders
Pages 459-469
Disorders of Glutamine, Serine and Asparagine Metabolism
Pages 471-479
Disorders of Amino Acid Transport at the Cell Membrane
Pages 481-492
Pages 493-500
Pages 501-510
Disorders of Cobalamin and Folate Transport and Metabolism
Pages 511-529
Disorders of Thiamine and Pyridoxine Metabolism
Pages 531-545
Disorders of Neurotransmission
Pages 547-570
Disorders of Peptide and Amine Metabolismdisorders
Pages 571-585
Disorders of Purine and Pyrimidine Metabolism
Pages 587-614
Disorders of Haem Biosynthesisbiosynthesis disorders
Pages 615-629
Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc
Pages 631-651
Front Matter
Pages 653-654
Disorders of Intracellular Triglyceride and Phospholipid Metabolism
Pages 655-676
Inborn Errors of Lipoprotein Metabolismdisorders Presenting in Childhood
Pages 677-691
Disorders of Isoprenoid/Cholesterol Synthesis
Pages 693-703
Disorders of Bile Acid Synthesis
Pages 705-718
Disorders of Nucleic Acid Metabolism, tRNA Metabolism and Ribosomal Biogenesis
Pages 719-734
Pages 735-764
Pages 765-783
Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders
Pages 785-809
Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism
Pages 811-832
Disorders of Cellular Trafficking
Pages 833-858
Front Matter
Pages 859-859
Medications Used in the Treatment of Inborn Errors of Metabolism
Pages 861-872
Pages 873-894
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