Abstract
Lesch-Nyhan syndrome is an X-linked disorder caused by a deficiency of the enzyme hypoxanthine guanine phosphoribosyltranferase (HGPRT, E.C.2.4.2.8) that catalyzes the conversion of hypoxanthine and guanine to their respective nucleotides (1,2). Lack of this enzymatic activity promotes an increase of hypoxanthine, xanthine and uric acid in biological fluids and an enhancement of adenine phosphoribosiltransferase (APRT, E.C.2.4.2.7) in cells (2). Because of Lesch-Nyhan syndrome (LNS) severity, early prenatal diagnosis may be requested to provide genetic advice. The prenatal diagnosis of LNS has been performed by enzyme assay or DNA analysis in amniocytes or chorionic villus sampling (3,4). Cordocentesis permits the obtaining of fetal blood for enzyme assay although its usefulness in the antenatal diagnosis of LNS has not been reported. Furthermore, there are no studies on the concentration of oxypurines in amniotic fluid in pregnancies with fetuses at risk of LNS. In this study we made a prenatal diagnosis of the LNS by cordocentesis in the 21st gestational week. In addition, we report the results of oxypurine levels in amniotic fluid.
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References
M. Lesch and W.L. Nyhan. A familial disorder of uric acid metabolism and central nervous system function. Am J Med 36: 561–570 (1964).
J.T. Stout and C.T. Caskey. Hypoxanthine phosphoribosyltransferase deficiency: the Lesch-Nyhan syndrome and gouty arthritis. In: C.H.R. Scriver, A.L. Baudet, W.S. Sly and D. Valle, eds. The metabolic basis of inherited disease. New Yoork: McGraw-Hill. 10071028 (1989).
D.A. Gibbs, I.R. McFayden, M.A. Crawfurd, et al. First trimester prenatal diagnosis of Lesch Nyhan syndrome. Lancet. 2: 1180–1183 (1984).
D.A. Gibbs, B.M.C. Headhouse and W.E. Watts. Family studies of the Lesch Nyhan syndrome: the use of a restriction fragment length polymorphism (RPLF) closely linked to the disease gene for carrier state and prenatal diagnosis. J Inherited Metab Dis 9: 4457 (1986).
F.A. Mateos, J.G. Puig, M.L. Jiménez, et al. Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. J Clin Invest 79: 847–852 (1987).
H.J. Rylance, R.C. Wallace and G. Nuki. Hypoxanthine-guanine phosphoribosyltransferase assay using high performance liquid chromatography. Clin Chim Acta 127: 159165 (1982).
H.J. Rylance, R.C. Wallace and G. Nuki. Adenine phosphoribosyltransferase: assay using high performance liquid chromatography. Clin Chem Acta 148: 267–272 (1985).
Canadian Collaborative CVS-Amniocentesis Clinical Trial Group. Multicentre randomized clinical trial of chorion villus sampling and amniocentesis. Lancet 1: 1–6 (1989).
G.G. Rhoads, L.G. Jackson, S.E. Schelesselman, et al. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med 320: 609–617 (1989).
F. Daffos, M. Capella-Pavlovsky and F.A. Forestier. A new procedure for fetal blood sampling in utero: preliminary results of 53 cases. Am J Obtet Gynaecol 146: 985–987 (1983).
A.E. Seeds. Current concepts of amniotic fluid dynamics. Am J Obstet Gynecol 138: 575586 (1980).
I.H. Fox. Adenosine triphosphate degradation in specific disease. J Lab Clin Med 106: 101–110 (1985).
R.A. Harkness. Hypoxanthine, xanthine and uridine in body fluids, indicators of depletion. J Chromatogr Biom Appl 429: 255–278 (1989).
O.D. Saugstad. Hypoxanthine as an indicator of hypoxia. Its role in health and disease through free radical production. Pediatr Res 23: 143–150 (1988).
F.A. Mateos, J.G. Puig T.H. Ramos, et al. Erythrocyte ATP (iATP) as an indicator of neonatal hypoxia. Adv Exp Med Biol 253A: 345–352 (1989).
P. Aula, K. Matilla, O. Piroinen, et al. First trimester prenatal diagnosis of aspartylglucosaminuria. Prenat Diag 9: 617–620 (1989).
P.A. Benn and L.Y.F. Hsu. Maternal cell contamination of amniotic fluid cell cultures. Results of a US nationwide survey. Am J Med Genet 15: 297–305 (1983).
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© 1991 Plenum Press, New York
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Mateos, F.A., Puig, J.G., Ramos, T.H., Jiménez, M.L., Romera, N.M., González, A.G. (1991). Prenatal Diagnosis of Lesch-Nyhan Syndrome by Purine Analysis of Amniotic Fluid and Cordocentesis. In: Harkness, R.A., Elion, G.B., Zöllner, N. (eds) Purine and Pyrimidine Metabolism in Man VII. Advances in Experimental Medicine and Biology, vol 309B. Springer, New York, NY. https://doi.org/10.1007/978-1-4615-7703-4_11
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DOI: https://doi.org/10.1007/978-1-4615-7703-4_11
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