Chapter 161. Disorders Resulting from Transporters

  1. Robert P. Lisak MD, FAAN, FRCP Parker Webber Chair Professor Chair Neurologist-in-Chief Chief2,3,
  2. Daniel D. Truong MD, FAAN Head4,
  3. William M. Carroll MBBS, MD, FRACP, FRCP(E) Head5 and
  4. Roongroj Bhidayasiri MD, FRCP Director6,7
  1. David Gloss MD Chief Resident

Published Online: 18 MAY 2010

DOI: 10.1002/9781444317008.ch161

International Neurology: A Clinical Approach

International Neurology: A Clinical Approach

How to Cite

Gloss, D. (2009) Disorders Resulting from Transporters, in International Neurology: A Clinical Approach (eds R. P. Lisak, D. D. Truong, W. M. Carroll and R. Bhidayasiri), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444317008.ch161

Editor Information

  1. 2

    Wayne State University School of Medicine, Detroit, MI, USA

  2. 3

    Detroit Medical Center, Harper University Hospital, Detroit, MI, USA

  3. 4

    The Parkinson and Movement Disorder Institute, Memorial Neuroscience Institute, Orange Coast Memorial Medical Center, Fountain Valley, CA, USA

  4. 5

    Sir Charles Gairdner Hospital, Nedlands, Perth, Australia

  5. 6

    Chulalongkorn Comprehensive Movement Disorders Center, Chulalongkorn University Hospital, Bangkok, Thailand

  6. 7

    University of California at Los Angeles, School of Medicine, Los Angeles, CA, USA

Author Information

  1. Department of Neurology, Tulane University School of Medicine, New Orleans, LA, USA

Publication History

  1. Published Online: 18 MAY 2010
  2. Published Print: 11 SEP 2009

ISBN Information

Print ISBN: 9781405157384

Online ISBN: 9781444317008

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Keywords:

  • disorders resulting from transporters;
  • transporter defects, comprising set of diseases, mostly rare, spanning areas of neurology;
  • Menkes' disease, first described by Menkes in 1962;
  • diagnosis generally clinical, with confirmation by low serum copper and ceruloplasmin levels;
  • Wilson's disease;
  • initial symptoms, including abnormal gait, speech and behavioral disturbances;
  • disease arising from defect in ATP7B gene on chromosome 13q14.3–q21.1;
  • GLUT-1 deficiency;
  • Carnitine O-palmitoyltransferase 2 deficiency - most common metabolic disorder of skeletal muscle;
  • acetoacetate and β-hyroxybutyrate - products of fatty acid metabolism

Summary

This chapter contains sections titled:

  • Introduction

  • Menkes' disease

  • Wilson's disease

  • Carnitine O-palmitoyltransferase 2 deficiency

  • GLUT-1 deficiency

  • Hereditary folate malabsorption

  • Further reading