Chapter 162. Lesch–Nyhan Disease

  1. Robert P. Lisak MD, FAAN, FRCP Parker Webber Chair Professor Chair Neurologist-in-Chief Chief3,4,
  2. Daniel D. Truong MD, FAAN Head5,
  3. William M. Carroll MBBS, MD, FRACP, FRCP(E) Head6 and
  4. Roongroj Bhidayasiri MD, FRCP Director7,8
  1. Allison Conravey MD Neurophysiology Fellow1 and
  2. Ann Tilton MD Section Chair Child Neurology Professor of Neurology and Pediatrics2

Published Online: 18 MAY 2010

DOI: 10.1002/9781444317008.ch162

International Neurology: A Clinical Approach

International Neurology: A Clinical Approach

How to Cite

Conravey, A. and Tilton, A. (2010) Lesch–Nyhan Disease, 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.ch162

Editor Information

  1. 3

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

  2. 4

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

  3. 5

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

  4. 6

    Sir Charles Gairdner Hospital, Nedlands, Perth, Australia

  5. 7

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

  6. 8

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

Author Information

  1. 1

    Child Neurologist, Department of Neurology, Louisiana State University Health Sciences Center, New Orleans, LA, USA

  2. 2

    Louisiana State University Health Sciences Center and Children's Hospital of New Orleans, 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



  • Lesch–Nyhan disease (LND);
  • LND, described in all parts of the world;
  • LND, recessive disorder caused by inborn error of purine metabolism;
  • patients with HGPRT deficiency - falling into three groups;
  • patients with LND, having severe cognitive impairment with IQs of approximately 60;
  • self-injurious behaviors - forms of compulsion, beginning to emerge by age 3;
  • dopaminergic drugs, treating dystonia and self-mutilating behaviors with disappointing results;
  • hyperuricemia, another regular feature of LND


This chapter contains sections titled:

  • Introduction

  • Epidemiology

  • Pathophysiology

  • Clinical features

  • Investigations

  • Treatment/management

  • Further reading