Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder that is transmitted by asymptomatic carrier females [1, 2]. Except for one case of a female with the LNS [3], in every family reported, transmission of the disease has been through the female to the affected male. The devastating neurological symptoms of this incurable disease makes its prevention of paramount importance. Prevention of LNS can be sought by means of detection of female carriers for hypoxanthine guanine phosphoribosyltransferase (HGPRT) deficiency and prenatal diagnosis. In families with one child or more affected by LNS, potential carriers must be screened for a deficient activity of HGPRT. The theoretical chance that a male fetus of a pregnant female carrier of LNS suffers the enzymatic defect is 50% and female carriers may ask for information about the risk of having offspring with this genetic disease. Antenatal diagnosis must be offered early because if an abortion is chosen it should take place at a stage of pregnancy when maternal — fetal bonding is less.


Amniotic Fluid Prenatal Diagnosis Chorionic Villus Female Carrier Antenatal Diagnosis 
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.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Lesch M, Nyhan WL (1964) A familial disorder of uric acid metabolism and central nervous system function. Am J Med 36: 561–570PubMedCrossRefGoogle Scholar
  2. 2.
    Stout JT, Caskey CT (1989) Hypoxanthine phosphoribosyltransferase deficiency: the Leschnyhan syndrome and gouty arthritis. In: Scriver CR, Beaudet AL., Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1007–1028Google Scholar
  3. 3.
    Fujimoto WY, Seegmiller JE, Uhlendorf BW, et al (1968) Bichemical diagnosed of an X-linked disease in utero. Lancet ii; 511–512CrossRefGoogle Scholar
  4. 4.
    Boyle JA, Raivio KO, Astrin KH, et al (1970) Lesch-Nyhan syndrome: preventative control by prenatal diagnosis. Science 169: 688–689PubMedCrossRefGoogle Scholar
  5. 5.
    Crawhall JC, Henderson JF, Kelley WN (1972) Diagnosis and treatment of the Lesch-Nyhan syndrome. Pediatr Res 6: 504–513PubMedCrossRefGoogle Scholar
  6. 6.
    De Bruyn CHMM. (1976) Hypoxanthine-guanine phosphoribosyltransferase deficiency in man. Hum Genet 31: 127–150PubMedCrossRefGoogle Scholar
  7. 7.
    Gibbs DA, McFadyen IR, Crawfurd MDA, et al (1984) First trimester prenatal diagnosis of Lesch-Nyhan syndrome. Lancet ii: 1180–1183CrossRefGoogle Scholar
  8. 8.
    Stout JT, Jackson LC, Caskey CT (1985) First trimester diagnosis of Lesch-Nyhan syndrome: application to other disorders of purine metabolism. Prenat Diagn 5: 183–189PubMedCrossRefGoogle Scholar
  9. 9.
    Pai GS, Sprenke JA, Do TT, Mateni CE, Migeon RO (1980) Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of non-random X-chromosome expression from human X-autosomal translocation. Proc Natl Acad Sci USA 77: 2810–2813PubMedCrossRefGoogle Scholar
  10. 10.
    Singh S, Wilier I (1991) Biochemical and molecular genetic investigation of HPRT deficiency mutations in a Turkish and three German families: heterozygote, prenatal and postnatal diagnosis with cell culture, DNA blot and PCR technique (Abstract). Int J Purine Pyrimidine Res 2 (Suppl 1): 86Google Scholar
  11. 11.
    Mateos FA, Puig TH, Jiménez ML, Romera NM, Gonzáles A (1991) Prenatal diagnosis of Lesch-Nyhan syndrome by purine analysis of amniotic fluid and cordocentesis. Adv Exp Med Biol 309 B: 47–50Google Scholar
  12. 12.
    Valle D (1991) Treatment and prevention of genetic disorders. In: Wilson JD, Braunwald E, Isselbacher KJ, Petersdordorf RG, Martin JB, Fauci AS, Root RK (eds) Principles of internal medicine, 12th edn. McGraw-Hill, New York, pp 55–60Google Scholar
  13. 13.
    Gibs DA, Headhouse-Benson CM, Watts RWE (1986) Family studies of the Lesch-Nyhan syndrome: the use of restriction fragment length polymorphism ( RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis. J Inher Dis 9: 45–58Google Scholar
  14. 14.
    Canadian Collaborative CVS-Amniocentesis Clinical Trial Group (1989) Multicentre randomized clinical trial of chorion villus sampling and amniocentesis. Lancet i: 1–6Google Scholar
  15. 15.
    Rhoads GG, Jackson LG, Schlesselman SE, et al (1989) The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Eng J Med 320: 609–617CrossRefGoogle Scholar
  16. 16.
    Gruber A, Zeitune M, Fejgin M (1989) Failure to diagnose Lesch-Nyhan syndrome by first trimester chorionic villus sampling. Prenat Diag 9: 452–453CrossRefGoogle Scholar
  17. 17.
    Daffos F, Capella-Pavlovsky M, Forestier FA (1983) A new procedure for fetal blood sampling in utero: preliminary results of 53 cases. Am J Obstet Gynecol 146: 985–987PubMedGoogle Scholar
  18. 18.
    Seeds AE (1980) Current concepts of amniotic fluid dynamics. Am J Obstet Gynecol 138: 575–586PubMedGoogle Scholar
  19. 19.
    Fox IH (1985) Adenosine triphosphate degradation in specific disease. J Lab Clin Med 106: 101–110PubMedGoogle Scholar
  20. 20.
    Harkness RA (1989) Hypoxanthine, xanthine and uridine in body fluids, indicators of depletion. J Chromatogr Biom Appl 429: 255–278CrossRefGoogle Scholar
  21. 21.
    Saugstad OD (1988) Hypoxanthine as an indicator of hypoxia. Its role in health and disease through free radical production. Pediatr Res 23: 143–150PubMedCrossRefGoogle Scholar
  22. 22.
    Mateos FA, JG. Puig JG, Ramos TH, et al (1989) Erythrocyte ATP (iATP) as an indica¬tor of neonatal hypoxia. Adv Exp Med Biol 253A: 345–352Google Scholar
  23. 23.
    Aula P, Matilla K, Pironinen O, et al (1989) First trimester prenatal diagnosis of as-party lglucosaminuria. Prenat Diag 9: 617–620CrossRefGoogle Scholar
  24. 24.
    Benn PA, Hsu LYF (1983) Maternal cell contamination of amniotic fluid cell cultures. Results of a US nationwide survey. Am J Med Genet 15: 297–305Google Scholar

Copyright information

© Springer Verlag, Berlin Heidelberg 1993

Authors and Affiliations

  • F. A. Mateos
  • J. G. Puig

There are no affiliations available

Personalised recommendations