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Inborn Metabolic Diseases

Diagnosis and Treatment

  • Book
  • © 2016

Overview

Editors:
  1. Jean-Marie Saudubray

    1. Department of Neurology, Neurometabolic Unit, Hôpital Pitié Salpêtrière, Paris, France

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  2. Matthias R. Baumgartner

    1. Division of Metabolism, University Children’s Hospital, Zurich, Switzerland

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  3. John Walter

    1. Willink Biochemical Genetics Unit Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK
      Central Manchester University Hospitals NHS Foundation Trust, St Mary‘s Hospital, Manchester, UK

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  • Essential resource in the interdisciplinary field of inborn metabolic diseases
  • Indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology
  • Written by internationally recognised experts on their subjects
  • Includes supplementary material: sn.pub/extras

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Table of contents (43 chapters)

  1. Front Matter

    Pages I-XXXI
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  2. Diagnosis and Treatment: General Principles

    1. Front Matter

      Pages 1-1
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    2. Clinical Approach to Inborn Errors of Metabolism in Pediatrics

      • Jean-Marie Saudubray, Angels Garcia-Cazorla
      Pages 3-70

    3. Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations

      • Fanny Mochel, Frédéric Sedel
      Pages 71-89

    4. Diagnostic Procedures

      • Guy Touati, Fanny Mochel, Daniel Rabier
      Pages 91-107

    5. Emergency Treatments

      • Manuel Schiff, Fanny Mochel, Carlo Dionisi-Vici
      Pages 109-117

  3. Disorders of Carbohydrate Metabolism

    1. Front Matter

      Pages 119-119
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    2. The Glycogen Storage Diseases and Related Disorders

      • John Walter, Philippe A. Labrune, Pascal Laforet
      Pages 121-137

    3. Disorders of Galactose Metabolism

      • Gerard T. Berry, John Walter, Judith L. Fridovich-Keil
      Pages 139-147

    4. Disorders of Glycolysis and the Pentose Phosphate Pathway

      • Mirjam M.C. Wamelink, Vassili Valayannopoulos, Barbara Garavaglia
      Pages 149-160

    5. Disorders of Fructose Metabolism

      • Beat Steinmann, René Santer
      Pages 161-168

    6. Congenital Hyperinsulinism

      • Jean-Baptiste Arnoux, Pascale de Lonlay
      Pages 169-174

    7. Disorders of Glucose Transport

      • René Santer, Joerg Klepper
      Pages 175-183

  4. Disorders of Mitochondrial Energy Metabolism

    1. Front Matter

      Pages 185-185
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    2. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

      • Linda de Meirleir, Angels Garcia-Cazorla, Michèle Brivet
      Pages 187-199

    3. Disorders of Mitochondrial Fatty Acid Oxidation & Riboflavin Metabolism

      • Andrew A. M. Morris, Ute Spiekerkoetter
      Pages 201-213

    4. Disorders of Ketogenesis and Ketolysis

      • Andrew A. M. Morris
      Pages 215-221

    5. Disorders of Oxidative Phosphorylation

      • Shamima Rahman, Johannes A. Mayr
      Pages 223-242

    6. Creatine Deficiency Syndromes

      • Sylvia Stöckler-Ipsiroglou, Saadet Mercimek-Mahmutoglu, Gajja S. Salomons
      Pages 243-248

  5. Disorders of Amino Acid Metabolism and Transport

    1. Front Matter

      Pages 249-250
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Keywords

About this book

This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas.

Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included. 

Reviews

“Inborn Metabolic Diseases: Diagnosis and Treatment remains one of the standard textbooks for professionals working in inborn metabolic medicine and biochemical genetics. … Inborn Metabolic Diseases: Diagnosis and Treatment gives an excellent and most up to date overview and deep insight on a rapidly evolving specialty with a steadily growing number of patients, most of them now growing-up and reaching adulthood, and is, therefore, informative for experts as well as for those who seek to become one.” (Ulrike Mütze, Journal of Inherited Metabolic Disease, Vol. 40, 2017)

Editors and Affiliations

  • Department of Neurology, Neurometabolic Unit, Hôpital Pitié Salpêtrière, Paris, France

    Jean-Marie Saudubray

  • Division of Metabolism, University Children’s Hospital, Zurich, Switzerland

    Matthias R. Baumgartner

  • Willink Biochemical Genetics Unit Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK

    John Walter

  • Central Manchester University Hospitals NHS Foundation Trust, St Mary‘s Hospital, Manchester, UK

    John Walter

About the editors

Jean-Marie Saudubray, M.D., is Emeritus Professor of Pediatrics and Expert Metabolic Consultant at the adult neuro-metabolic unit in the Hôpital La Pitié Salpétrière from the Université Pierre et Marie Curie, Paris.

Matthias R. Baumgartner, M.D., Professor of Paediatrics and Inherited Metabolic Medicine, University of Zurich, is Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich.

John Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Manchester Academic Health Science Centre, Willink Unit, Manchester.

Bibliographic Information

  • Book Title: Inborn Metabolic Diseases

  • Book Subtitle: Diagnosis and Treatment

  • Editors: Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter

  • DOI: https://doi.org/10.1007/978-3-662-49771-5

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer-Verlag GmbH Germany 2016

  • eBook ISBN: 978-3-662-49771-5Published: 10 November 2016

  • Edition Number: 6

  • Number of Pages: XXXI, 658

  • Topics: Pediatrics, Human Genetics, Endocrinology, Neurology

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