Fernandes / Saudubray / Berghe Inborn Metabolic Diseases
2. Auflage 1995
ISBN: 978-3-662-03147-6
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark
Diagnosis and Treatment
E-Book, Englisch, 443 Seiten, Web PDF
Reihe: Medicine
ISBN: 978-3-662-03147-6
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark
Five years after its predecessor, the second edition of Inborn Metabolic Diseases: Diagnosis and Treatment is appearing in an almost completely revised form. Its main feature is an even stronger emphasis on the clinical presentation of inborn errors of metabolism. For that reason, clinical approach has not only remained the central theme of the first chapter, but also become the starting point for all chapters dealing with either a single specific disorder or a group of diseases. Particular attention has been paid to clinical presentation under acute, subacute or chronic forms, to the appearance of initially aspecific symptoms evolving into a more characteristic syn drome at a later age, or vice versa, to clinical heterogeneity and its relation to genetic and biochemical heterogeneity. Brief reference to other diagnostic possibilities is also given in all disease-related chapters. Description of the metabolic derangements is restricted to the main pathophysiological features which provide the rationale for diagnosis and treatment. Methods to ascertain the diagnosis and diagnostic tests are listed comprehensively. As in the first edition, treatment is discussed extensively. Details are given for dietary treatment and drug administrations in acute situations, during infections and in maintenance treatment. The impressive progress of knowledge with respect to genetic lesions in inborn errors of metabolism remains condensed to the essentials. For more detailed information, particularly with respect to pathophysiology and genetics, we highly recommend the seventh edition of The Metabolic Basis of Inherited Disease, by Charles R. Scriver et al. (McGraw-Hill, 1995).
Zielgruppe
Professional/practitioner
Weitere Infos & Material
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.- II Carbohydrate Metabolism.- 5 Glycogen Storage Diseases.- 6 Disorders of Galactose Metabolism.- 7 Disorders of Fructose Metabolism.- 8 Disorders of Gluconeogenesis.- III Mitochondrial Energy Metabolism.- 9 The Pyruvate Dehydrogenase Complex and Tricarboxylic Acid Cycle.- 10 The Respiratory Chain.- 11 Disorders of Fatty Acid Oxidation.- IV Aminoacids.- 12 Hyperphenylalaninaemias.- 13 Tyrosine.- 14 Urea Cycle Disorders.- 15 Homocystinuria Due to Cystathionine ?-Synthase Deficiency and Related Disorders.- 16 Ornithine.- 17 Nonketotic Hyperglycinemia.- V Peptide Metabolism.- 18 Disorders of the Gamma Glutamyl Cycle.- 19 Disorders of Small Peptides.- VI Organic Acids.- 20 Branched-Chain Organic Acidurias.- 21 Ketolysis Defects.- 22 Glutaric Aciduria Type I and Related Cerebral Organic Acid Disorders.- VII Vitamin-Responsive Disorders.- 23 Biotin-Responsive Multiple Carboxylase Deficiency.- 24 Inherited Disorders of Cobalamin and Folate Absorption and Metabolism.- VIII Lipids.- 25 Dyslipidemias.- IX Nucleic Acids.- 26 Disorders of Purine and Pyrimidine Metabolism.- X Neurotransmitters.- 27 Disorders of Neurotransmitters.- XI Metals.- 28 Copper: Wilson and Menkes Diseases.- 29 Genetic Defects Related to Metals Other Than Copper.- XII Porphyrins and Herne.- 30 Porphyrias.- 31 Inborn Errors of Bile Acid Synthesis.- 32 Bilirubin.- XIII Membrane Transport.- 33 Alpha-l-Antitrypsin Deficiency.- 34 Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance.- XIV Organelle Disorders:Lysosomes, Golgi and Pre-Golgi Systems, Peroxisomes.- 35 Sphingolipids.- 36 Mucopolysaccharides and Oligosaccharides.- 37 Cystinosis.- 38 Carbohydrate-Deficient Glycoprotein Syndromes.- 39 Peroxisomal Disorders.- 40 Oxalosis (Primary Hyperoxaluria).- XV New Trends of Treatment.- 41 Liver Transplantation.- 42 Bone Marrow Transplantation.- 43 Somatic Gene Therapy.
