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Handb Clin Neurol. 2014;120:827-38. doi: 10.1016/B978-0-7020-4087-0.00055-3.

Disorders of purines and pyrimidines.

Author information

  • 1Department of Neurology, Tulane University School of Medicine, New Orleans, LA, USA. Electronic address: rkelley2@tulane.edu.
  • 2Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA.

Abstract

Disorders of purine and pyrimidine metabolism can result in an array of clinical manifestations including neurologic manifestations. The most commonly cited disorder, in the neurologic realm, is Lesch-Nyhan syndrome which presumably reflects its distinctive feature of self-mutilation. Expansion of our knowledge with molecular genetic methodology has helped to better identify and characterize mutations such as those which occur with the enzyme hypoxanthine guanine phosphoribosyltransferase (HPRT), and this has enhanced our understanding of phenotypical expression of Lesch-Nyhan syndrome and Lesch-Nyhan variants. It is hoped that further elucidation of DNA coding regions and messenger RNA expression will lead to the potential for gene therapy to correct these inborn errors of purine and pyrimidine metabolism.

© 2014 Elsevier B.V. All rights reserved.

KEYWORDS:

Arts syndrome; Lesch–Nyhan syndrome; Purine metabolism; gout; hepatocerebral syndrome; orotic aciduria; pyrimidine metabolism; von Gierke disease

PMID:
24365355
[PubMed - indexed for MEDLINE]
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