Inherited Metabolic Diseases

A Clinical Approach

  • Georg F. Hoffmann
  • Johannes Zschocke
  • William L. Nyhan

Table of contents

  1. Front Matter
    Pages i-xvii
  2. Introduction to Inborn Errors of Metabolism

    1. Front Matter
      Pages 1-1
    2. Johannes Zschocke
      Pages 3-8
    3. Georg F. Hoffmann
      Pages 13-15
  3. Approach to the Patient

    1. Front Matter
      Pages 17-17
    2. William L. Nyhan
      Pages 19-28
    3. William L. Nyhan, Georg F. Hoffmann
      Pages 29-30
    4. Stefan Kölker
      Pages 41-43
    5. Steve Hannigan
      Pages 45-47
    6. Elaine Murphy
      Pages 61-80
    7. William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
      Pages 81-90
    8. William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
      Pages 91-94
    9. William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
      Pages 95-99
    10. William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
      Pages 101-106
    11. William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
      Pages 107-111
    12. William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
      Pages 113-117
    13. William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
      Pages 119-124
    14. William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
      Pages 125-131
    15. William L. Nyhan
      Pages 133-137
    16. Anita MacDonald
      Pages 139-153
  4. Organ Systems in Metabolic Disease

    1. Front Matter
      Pages 173-173
    2. Joachim Kreuder, Stephen G. Kahler
      Pages 175-201
    3. Georg F. Hoffmann, Patrick McKiernan
      Pages 203-226
    4. Stephen G. Kahler
      Pages 227-237
    5. William L. Nyhan
      Pages 239-250
    6. Angels García-Cazorla, Nicole I. Wolf, Fanny Mochel, Georg F. Hoffmann
      Pages 251-292
    7. Stephen G. Kahler
      Pages 293-312
    8. Ertan Mayatepek
      Pages 313-317
    9. Alberto Burlina, Andrea Celato, Alessandro P. Burlina
      Pages 319-339
    10. Diego Martinelli, Maya El Hachem, Enrico Bertini, Carlo Dionisi-Vici
      Pages 341-370
    11. Andrea Superti-Furga, Luisa Bonafé, Sheila Unger
      Pages 371-380
    12. Ute Moog, Johannes Zschocke, Stephanie Grünewald
      Pages 381-399
    13. Ellen Crushell, Joe T. R. Clarke
      Pages 401-410
    14. Ertan Mayatepek
      Pages 411-418
  5. Investigations for Metabolic Diseases

    1. Front Matter
      Pages 419-419
    2. Dietrich Matern, Piero Rinaldo
      Pages 421-437
    3. Miao He, K. Michael Gibson
      Pages 439-460
    4. Johannes Zschocke
      Pages 489-498
    5. Johannes Zschocke
      Pages 499-503
    6. Johannes Zschocke, Stefan Kölker
      Pages 505-520
    7. Shamima Rahman, Nicole I. Wolf
      Pages 521-535
    8. Josefine Radke, Werner Stenzel, Hans H. Goebel
      Pages 537-550
    9. Piero Rinaldo
      Pages 551-554
    10. Inga Harting, Nicole I. Wolf
      Pages 555-570

About this book


This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.


DNA Dietary Therapy Enzyme Replacement Therapy Gene Therapy Inborn Errors of Metabolism Metabolic Emergencies Metabolic Medicine Newborn Screening Mitochondrial disorders Myopathy Molecular Investigations Human Genetics Genetic Disease

Editors and affiliations

  • Georg F. Hoffmann
    • 1
  • Johannes Zschocke
    • 2
  • William L. Nyhan
    • 3
  1. 1.Department of PediatricsUniversity of HeidelbergHeidelbergGermany
  2. 2.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  3. 3.Department of PediatricsUniversity of California San Diego La JollaUSA

Bibliographic information

  • DOI
  • Copyright Information Springer-Verlag Berlin Heidelberg 2017
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine Medicine (R0)
  • Print ISBN 978-3-662-49408-0
  • Online ISBN 978-3-662-49410-3
  • Buy this book on publisher's site