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Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPRT) Deficiency in a Girl

  • N. Ogasawara
  • S. Kashiwamata
  • H. Oishi
  • K. Hara
  • K. Watanabe
  • S. Miyazaki
  • T. Kumagai
  • S. Hakamada
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

Lesch-Nyhan disease is an X-linked recessive disorder characterized by hyperuricemia, physical and mental retardation, choreoathetosis, and compulsive self-mutilation. The disease is associated with absence of activity of an enzyme involved in purine metabolism, namely hypoxanthine guanine phosphoribosyl transferase (HGPRT), and is believed to affect male only. We present here, however, an unusual case of a girl with the Lesch-Nyhan syndrome, whose mother is not heterozygous for a deficiency of the enzyme.

Keywords

Phosphoribosyl Transferase Hypoxanthine Phosphoribosyl Transferase HGPRT Activity APRT Activity Athetoid Movement 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • N. Ogasawara
    • 1
  • S. Kashiwamata
    • 1
  • H. Oishi
    • 1
  • K. Hara
    • 2
  • K. Watanabe
    • 2
  • S. Miyazaki
    • 2
  • T. Kumagai
    • 2
  • S. Hakamada
    • 2
  1. 1.Institute for Developmental ResearchAichiJapan
  2. 2.Aichi Prefectural ColonyCentral HospitalKasugai, AichiJapan

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