Chapter 37. Fatty Acid Mitochondrial Disorders

  1. Nils Erik Gilhus MD, PhD Professor8,
  2. Michael P. Barnes MD, FRCP Professor of Neurological Rehabilitation Medical Director9 and
  3. Michael Brainin MD Professor10
  1. C. Angelini1,
  2. A. Federico2,
  3. H. Reichmann3,
  4. A. Lombes4,
  5. C. Verney Saban5,
  6. P. Chinnery6 and
  7. J. Vissing7

Published Online: 6 SEP 2010

DOI: 10.1002/9781444328394.ch37

European Handbook of Neurological Management, Second Edition, Volume 1, Second Edition

European Handbook of Neurological Management, Second Edition, Volume 1, Second Edition

How to Cite

Gilhus, N. E., Barnes, M. P. and Brainin, M. (2010) Fatty Acid Mitochondrial Disorders, in European Handbook of Neurological Management, Second Edition, Volume 1, Second Edition, Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444328394.ch37

Author Information

  1. 8

    Department of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital, Bergen, Norway

  2. 9

    University of Newcastle, Hunters Moor Neurorehabilitation Ltd, Newcastle upon Tyne, UK

  3. 10

    Department of Clinical Medicine and Prevention, and Center for Clinical Neurosciences, Donau-Universität Krems, Department of Neurology, Landesklinikum Donauregion Tulln Tulln, Austria

Author Information

  1. 1

    University of Padova, Padova, Italy

  2. 2

    University of Siena, Siena, Italy

  3. 3

    University Clinic Carl Gustav Carus, Dresden, Germany

  4. 4

    Institute of Myology, Paris, France

  5. 5

    Hôpital de Lyon, France

  6. 6

    Newcastle University Medical School, Newcastle - upon - Tyne, UK

  7. 7

    University of Copenhagen, Copenhagen, Denmark

Publication History

  1. Published Online: 6 SEP 2010
  2. Published Print: 15 OCT 2010

ISBN Information

Print ISBN: 9781405185332

Online ISBN: 9781444328394

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Keywords:

  • fatty acid mitochondrial disorders;
  • lipid storage myopathies (LSMs), disease entities - biochemical defects being heterogeneous;
  • CPT II deficiency, in young adults - episodes of muscle pain and rhabdomyolysis triggered by prolonged exercise, fasting, cold or a combination of these;
  • analysis of acylcarnitines - in blood, using tandem mass spectrometry;
  • structural organization and mutational spectrum - of carnitine palmitoyltransferase II gene;
  • carnitine palmitoyltransferase (CPT) II deficiency;
  • structural organization and mutational spectrum - of carnitine palmitoyltransferase II gene;
  • preventing episodes of myoglobinuria - achieved by avoiding strenuous exercise during fasting

Summary

This chapter contains sections titled:

  • Introduction

  • Search strategy

  • Results

  • Good Practice Points for the treatment of fatty acids disorders

  • References