Molecular Mechanisms of the Second Female Lesch-Nyhan Patient

  • Yasukazu Yamada
  • Haruko Goto
  • Takeo Yukawa
  • Hirofumi Akazawa
  • Nobuaki Ogasawara
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 370)


Lesch-Nyhan syndrome is an X linked recessive disorder characterized by hyperuricemia, physical and mental retardation, choreoathetosis, and compulsive self-mutilation. 1 This disease is associated with the absence of activity of an enzyme involved in purine metabolism, namely hypoxanthine guanine phosphoribosyltransferase (HPRT, EC HPRT locus is on long arm of X chromosome, q26 and because of inability of reproduction in Lesch-Nyhan patient, this disorder occurs only in males. We have, however, two unusual cases of female Lesch-Nyhan patients.


Pyrimidine Metabolism HPRT Gene mRNA Turnover Adenine Phosphoribosyltransferase Normal mRNA 
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Copyright information

© Springer Science+Business Media New York 1995

Authors and Affiliations

  • Yasukazu Yamada
    • 1
  • Haruko Goto
    • 1
  • Takeo Yukawa
    • 2
  • Hirofumi Akazawa
    • 2
  • Nobuaki Ogasawara
    • 1
  1. 1.Department of GeneticsInstitute for Developmental ResearchKasugai, AichiJapan
  2. 2.Ehime Disabled Children’s HospitalEhime 790Japan

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