Prenatal Diagnosis of Lesch-Nyhan Syndrome
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 , 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.
KeywordsArthritis Creatinine Adenosine Adenine Pyrimidine
Unable to display preview. Download preview PDF.
- 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
- 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.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.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.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.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.Canadian Collaborative CVS-Amniocentesis Clinical Trial Group (1989) Multicentre randomized clinical trial of chorion villus sampling and amniocentesis. Lancet i: 1–6Google Scholar
- 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
- 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