Inborn Metabolic Diseases

1. Front Matter

   Pages I-XV

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2. Diagnosis and Treatment: General Principles

   1. Front Matter

      Pages 1-1

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   2. Clinical Approach to Inherited Metabolic Diseases

      • J.-M. Saudubray, H. Ogier de Baulny, C. Charpentier

      Pages 3-39

   3. Diagnostic Procedures: Function Tests and Postmortem Protocol

      • J. Fernandes, J.-M. Saudubray

      Pages 41-46

   4. Emergency Treatments

      • H. Ogier de Baulny, J.-M. Saudubray

      Pages 47-55

   5. Psychosocial Care of the Child and Family

      • J. C. Harris

      Pages 57-67

3. Carbohydrate Metabolism

   1. Front Matter

      Pages 69-69

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   2. Glycogen Storage Diseases

      • J. Fernandes, Y.-T. Chen

      Pages 71-85

   3. Disorders of Galactose Metabolism

      • R. Gitzelmann

      Pages 87-93

   4. Disorders of Fructose Metabolism

      • G. Van den Berghe

      Pages 95-99

   5. Disorders of Gluconeogenesis

      • N. R. M. Buist

      Pages 101-106

4. Mitochondrial Energy Metabolism

   1. Front Matter

      Pages 107-107

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   2. The Pyruvate Dehydrogenase Complex and Tricarboxylic Acid Cycle

      • D. S. Kerr, A. B. Zinn

      Pages 109-119

   3. The Respiratory Chain

      • A. Munnich

      Pages 121-131

   4. Disorders of Fatty Acid Oxidation

      • C. A. Stanley

      Pages 133-143

5. Aminoacids

   1. Front Matter

      Pages 145-145

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   2. Hyperphenylalaninaemias

      • I. Smith, D. P. Brenton

      Pages 147-160

   3. Tyrosine

      • E. A. Kvittingen, P. T. Clayton, J. V. Leonard

      Pages 161-166

   4. Urea Cycle Disorders

      • J. V. Leonard

      Pages 167-176

   5. Homocystinuria Due to Cystathionine β-Synthase Deficiency and Related Disorders

      • G. Andria, G. Sebastio

      Pages 177-182

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).

• Aminosäuren
• Kohlenhydrate
• Lipidstoffwechsel
• Neurotransmitter
• Stoffwechselstörungen
• diagnosis
• inborn diseases
• metabolic disease
• metabolic diseases
• metabolic disorder
• metabolism
• therapy

• University Children’s Hospital, Groningen, The Netherlands

  John Fernandes

• Hospital Necker-Enfants Malades, Paris Cedex, France

  Jean-Marie Saudubray

• International Institute of Cellular and Molecular Pathology, Brussels, Belgium

  Georges Berghe

• Sendai, Japan

  K. Tada

• Portland, USA

  N. R. M. Buist

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