Fernandes / Saudubray / Berghe Inborn Metabolic Diseases

Diagnosis and Treatment
Third Auflage 2000
ISBN: 978-3-662-04285-4
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, 467 Seiten

Reihe: Medicine (R0)

This classical textbook has become indispensable for those dealing with metabolic disorders in the front line. This 4th edition has been thoroughly updated and revised. It includes one new chapter on neonatal screening by tandem MS/MS and several new groups of disorders. The first chapter presents the clinical approach to inherited metabolic disease using many algorithms and tables, and has been entirely revised and extended to include adult metabolic medicine. It now incorporates many new findings particularly in neuroradiology and neurophysiology, and emphasizes those disorders for which treatment is available. This accessible and practical book can be used either by going directly to the relevant chapter when the diagnosis is already suspected or by referring to Chapter 1 if it is unknown.

"This is an invaluable book for anyone seeking a short, practical, authoritative work on inborn errors of metabolism…" New England Journal of Medicine.

Zielgruppe

Professional/practitioner

Autoren/Hrsg.

Fernandes, John

Saudubray, Jean-Marie

Berghe, Georges van den

Inhaltsverzeichnis

I Diagnosis and Treatment: General Principles.- 1. Clinical Approach to Inherited Metabolic Diseases.- 2. Diagnostic Procedures: Function Tests and Postmortem Protocol.- 3. Emergency Treatments.- 4. Psychosocial Care of the Child and Family.- 5. Treatment: Present Status and New Trends.- Il Disorders of Carbohydrate Metabolism.- 6. The Glycogen-Storage Diseases.- 7. Disorders of Galactose Metabolism.- 8. Disorders of Fructose Metabolism.- 9. Persistent Hyperinsulinemic Hypoglycemia.- Ill Disorders of Mitochondrial Energy Metabolism.- 10. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- 11. Disorders of Fatty Acid Oxidation.- 12. Disorders of Ketogenesis and Ketolysis.- 13. Defects of the Respiratory Chain.- IV Disorders of Amino Acid Metabolism and Transport.- 14. The Hyperphenylalaninaemias.- 15. Disorders of Tyrosine Metabolism.- 16. Branched-Chain Organic Acidurias.- 17. Disorders of the Urea Cycle.- 18. Disorders of Sulfur Amino Acid Metabolism.- 19. Disorders of Ornithine and Creatine Metabolism.- 20. Disorders of Lysine Catabolism and Related Cerebral Organic-Acid Disorders.- 21. Nonketotic Hyperglycinemia.- 22. Disorders of Proline and Serine Metabolism.- 23. Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance.- V Vitamin-Responsive Disorders.- 24. Biotin-Responsive Multiple Carboxylase Deficiency.- 25. Disorders of Cobalamin and Folate Transport and Metabolism.- VI Neurotransmitter and Small Peptide Disorders.- 26. Disorders of Neurotransmission.- 27. Disorders in the Metabolism of Glutathione and Imidazole Dipeptides.- VII Disorders of Lipid and Bile Acid Metabolism.- 28. Dyslipidemias.- 29. Disorders of Cholesterol Synthesis.- 30. Disorders of Bile-Acid Synthesis.- VIII Disorders of Nucleic Acid and Heme Metabolism.- 31. Disorders of Purine and Pyrimidine Metabolism.- 32. The Porphyrias.- IX Disorders of Metal Transport.- 33. Copper Transport Disorders: Wilson Disease and Menkes Disease.- 34. Genetic Defects Related to Metals Other Than Copper.- X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems.- 35. Disorders of Sphingolipid Metabolism.- 36. Mucopolysaccharidoses and Oligosaccharidoses.- 37. Peroxisomal Disorders.- 38. Congenital Defects of Glycosylation: Disorders of N-Glycan Synthesis.- 39. Cystinosis.- 40. Primary Hyperoxalurias.- 41. Leukotriene-C4-Synthesis Deficiency.