Inborn Metabolic Diseases: Diagnosis and Treatment

John Fernandes, Jean-Marie Saudubray, Georges van den Berghe

Springer Science & Business Media, Mar 14, 2013 - Medical - 443 pages

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).

Contents

• Clinical Approach to Inherited Metabolic Diseases: 5
• Acute Symptoms in the Neonatal Period 4 cumb in the newborn period without having: 11
• Clinical Approach to Inherited Metabolic Diseases: 25
• Chronic and Progressive General Symptoms 21 common accompaniment of metabolic: 28
• J FERNANDES and J M SAUDUBRAY: 41
• Emergency Treatments: 47
• Psychosocial Care of the Child and Family: 56
• Glycogen Storage Diseases: 69
• Disorders of Galactose Metabolism: 87
• Disorders of Fructose Metabolism: 94
• N R M BUIST: 101
• The Pyruvate Dehydrogenase Complex and Tricarboxylic Acid Cycle: 108
• The Respiratory Chain: 121
• Disorders of Fatty Acid Oxidation: 132
• Hyperphenylalaninaemias: 145
• E A KVITTINGEN P T CLAYTON and J V LEONARD: 161
• Homocystinuria Due to Cystathionine BSynthase Deficiency: 177
• Nonketotic Hyperglycinemia: 191
• BranchedChain Organic Acidurias: 207
• Ketolysis Defects: 222
• BiotinResponsive Multiple Carboxylase Deficiency: 239
• Dyslipidemias: 261
• Disorders of Purine and Pyrimidine Metabolism: 287
• Disorders of Neurotransmitters: 305
• Wilson and Menkes Diseases: 317
• Genetic Defects Related to Metals Other Than Copper: 325
• BECK M D: 329
• Porphyrias: 331
• Inborn Errors of Bile Acid Synthesis: 341
• Alpha1Antitrypsin Deficiency: 359
• Sphingolipids: 374
• Mucopolysaccharides and Oligosaccharides: 383
• Peroxisomal Disorders: 399
• Liver Transplantation: 417
• Subject Index: 439

Bibliographic information

• Title: Inborn Metabolic Diseases: Diagnosis and Treatment
• Editors: John Fernandes, Jean-Marie Saudubray, Georges van den Berghe
• Contributors: K. Tada, N.R.M. Buist
• Edition: 2, illustrated
• Publisher: Springer Science & Business Media, 2013
• ISBN: 3662031477, 9783662031476
• Length: 443 pages
• Subjects: Medical / Clinical Medicine; Medical / Endocrinology & Metabolism; Medical / Pediatrics