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)

Abstract

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 2.4.2.8).2 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.

Keywords

Codon Adenine Pyrimidine Purine Guanine 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    M. Lesch, and W.L. Nyhan, A familial disorder of uric acid metabolism and central nervous system function., Am. J. Med. 36: 561 (1964).PubMedCrossRefGoogle Scholar
  2. 2.
    J.E. Seegmiller, F.M. Rosenbloom, and W.N. Kelley, Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis., Science 155: 1682 (1967).PubMedCrossRefGoogle Scholar
  3. 3.
    K. Hara, S. Kashiwamata, N. Ogasawara, H. Ohishi, R. Natsume, T. Yamanaka, S. Hakamada, S. Miyazaki, and K. Watanabe, A female case of the Lesch-Nyhan syndrome., Tohoku J. Exp. Med. 137:275 (1982).PubMedCrossRefGoogle Scholar
  4. 4.
    N. Ogasawara, J.T. Stout, H. Goto, S. Sonta, A. Matsumoto, and C.T. Caskey, Molecular analysis of a female Lesch-Nyhan patient., J. Clin. Invest. 84: 1024 (1989).PubMedCrossRefGoogle Scholar
  5. 5.
    N. Ogasawara, Y. Yainada, and H. Goto, HPRT gene mutations in a female Lesch-Nyhan patient., Adv. Exp. Med. Biol. 309B: 109 (1991).PubMedCrossRefGoogle Scholar
  6. 6.
    T. Yukawa, H. Akazawa, Y. Miyake, Y. Takahashi, H. Nagao, and E. Takeda, A female patient with Lesch-Nyhan syndrome., Developmental Med. Child Neurol. 34:554 (1992).Google Scholar
  7. 7.
    Y. Yamada, H. Goto, K. Suzumori, R. Adaclii, and N. Ogasawara, Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency., Hum. Genet. 90: 379 (1992).PubMedCrossRefGoogle Scholar
  8. 8.
    D.G. Sculley, P.A. Dawson, B.T. Emmerson, and R.B. Gordon, A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency., Hum. Genet. 90: 195 (1992).PubMedCrossRefGoogle Scholar
  9. 9.
    S. Fujimori, N. Kamatani, Y. Nishida, N. Ogasawara, and I. Akaoka, Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese. Hum. Genet. 84: 483 (1990).PubMedCrossRefGoogle Scholar
  10. 10.
    B.L. Davidson, S.A. Tarle, M. van Antwerp, D.A. Gibbs, R.W.E. Watts, W.N. Kelley, and T.D. Palella, Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyl transferse (HPRT) deficiency., Am. J. Hum. Genet. 48: 951 (1991).PubMedGoogle Scholar
  11. 11.
    S.A. Tarle, B.L. Davidson, V.C. Wu, F.J. Zidar, J.E. Seegmiller, W.N. Kelley, and T.D. Palella Determination of the mutation responsible for the Lesch-Nyhan syndrome in 17 subjects., Genomics 10: 499(1991).PubMedCrossRefGoogle Scholar
  12. 12.
    S. Fujimori, Genetic diagnosis and therapy of Lesch-Nyhan syndrome., Purine and Pyrimidine Metabolism 17: 158 (1993).Google Scholar

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

Personalised recommendations