Molecular Genetics, Biochemistry and Clinical Aspects of by R. W. E. Watts (auth.), Privat-Dozentin Dr. Ursula Gresser

By R. W. E. Watts (auth.), Privat-Dozentin Dr. Ursula Gresser (eds.)

Inherited problems of purine and pyrimidine metabolism in guy result in critical ailments. on the second M}nchner Adventssymposium the state-of-the-art as to the genetic foundation, scientific features, and the biochemical foundation has been given by means of top specialists within the fields in regards to the following illnesses: Hypoxanthine phosphoribosyltransferase deficiency (HGPRT-deficieny), adenine phosphoribosyltransferase deficiency (APRT-deficiency), hyperuricemia and gout, adenosine deaminase deficiency (ADA-deficiency, purine nucleoside phosphorylase deficiency (PNP-deficiency). All contributions of the symposium are released inside of this quantity therefore giving and review of this best box.

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Additional info for Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism

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The first prenatal diagnosis of LNS during the first trimester of pregnancy was made in 1968 [3]. This study used a radioautographic procedure showing the incorporation of PH] hypoxanthine into the nucleic acid of cells cultured from the amniotic fluid. Since then, some authors have published the results of prenatal diagnosis of LNS by measuring HGPRTactivity in amniotic cells and in chorionic villus samples [4-8]. More recently, the prenatal diagnosis of LNS has been documented by DNA analysis of extracts from cultured amniocytes or chorionic villus samples [9, 10].

Stout IT, Caskey CT (1989) Hypoxanthine phosphoribosyltransferase deficiency: the Lesch-nyhan syndrome and gouty arthritis. , SlyWS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1007-1028 3. Fujimoto WY, Seegmiller JE, Uhlendorf BW, et al (1968) Bichemical diagnosed of an X-linked disease in utero. Lancet ii; 511-512 4. Boyle JA, Raivio KO, Astrin KH, et al (1970) Lesch-Nyhan syndrome: preventative control by prenatal diagnosis. Science 169: 688-689 5.

Acta Neurol Scand 81: 184-187 61. Skolnick P, Paul SM, Marangos PJ (1980) purines as endogenous ligands of the benzodiazepine receptor. Fed Proc 39: 3050-3055 62. Phillis JW (1979) Diazepam potentiation of purinergic depression of central neurons. Can J Physiol Pharmacol57: 432-435 63. Daly JW; Burns RF, Snyder SH (1981) Adenosine receptors in the central nervous system: relationship to the central actions of methylxanthines. Life Sci 28: 1083-2097 64. Mizuno T (1986) Long-term follow-up of ten patients with Lesch-Nyhan syndrome.

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