Inborn Metabolic Diseases: Diagnosis and Treatment-7판

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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.

The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques.

Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.



I. Diagnosis and Treatment: General Principles

1. Clinical Approach to Inborn Errors of Metabolism in Paediatrics...
2. Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations...
3. Diagnostic Procedures
4. Emergency Treatments

II. Disorders of Energy Metabolism

5. The Glycogen Storage Diseases and Related Disorders
6. Congenital Hyperinsulinism and Genetic Disorders of Insulin Resistance and Signalling...
7. Disorders of Glycolysis and the Pentose Phosphate Pathway
8. Disorders of Glucose and Monocarboxylate Transporters
9. Disorders of Creatine Metabolism
10. Disorders of Oxidative Phosphorylation
11. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle...
12. Disorders of Mitochondrial Fatty Acid Oxidation & Riboflavin Metabolism...
13. Disorders of Ketogenesis and Ketolysis

III. Small Molecule Disorders

14. Disorders of Galactose Metabolism
15. Disorders of Fructose Metabolism
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 and Lipoate Deficiency Disorders...
24. Disorders of Glutamine, Serine and Asparagine Metabolism
25. Disorders of Amino Acid Transport at the Cell Membrane
26. Cystinosis
27. Biotin-Responsive Disorders
28. Disorders of Cobalamin and Folate Transport and Metabolism...
29. Disorders of Thiamine and Pyridoxine Metabolism
30. Disorders of Neurotransmission
31. Disorders of Peptide and Amine Metabolism
32. Disorders of Purine and Pyrimidine Metabolism
33. Disorders of Haem Biosynthesis
34. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc...

IV. Complex Molecule Disorders and Cellular Trafficking Disorders...

35. Disorders of Intracellular Triglyceride and Phospholipid Metabolism...
36. Inborn Errors of Lipoprotein Metabolism Presenting in Childhood...
37. Disorders of Isoprenoid/Cholesterol Synthesis
38. Disorders of Bile Acid Synthesis
39. Disorders of Nucleic Acid Metabolism, tRNA Metabolism and Ribosomal Biogenesis...
40. Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses...
41. Glycosaminoglycans and Oligosaccharides Disorders: Glycosaminoglycans Synthesis Defects, Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders...
42. Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders...
43. Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism...
44. Disorders of Cellular Trafficking

V. Appendices

45. Medications Used in the Treatment of Inborn Errors of Metabolism
Back Matter