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Résumé

Le métabolisme des purines conduit à la synthèse des nucléotides puriques qui sont des constituants cellulaires essentiels intervenant dans le transfert énergétique, les régulations métaboliques et la synthèse des acides nucléiques ARN et ADN [1, 2].

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Références

  1. Jurecka A (2009) Inborn errors of purine and pyrimidine metabolism. J Inherit Metab Dis 32: 247–63

    Article  PubMed  CAS  Google Scholar 

  2. Van den Berghe G, Vincent M-F, Marie S (2000) Disorders of purine and pyrimidine metabolism. ln: Fernandes J, Saudubray J-M, Van den Berghe G (eds) Inborn metabolic diseases, Springer, Berlin, pp 356–68

    Google Scholar 

  3. Hershfield MS, Arrendondo-Vega FX, Sebastian l (1997) Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency. J Inherit Metab Dis 20: 179–85

    Article  PubMed  CAS  Google Scholar 

  4. Muul LM, Tuschong LM, Soenen SL, et al. (2003) Persistance and expression of the adenosine deaminase gene for 12 years and immune reaction to gene transfer components: long-term results of the first clinical gene therapy trial. Blood 101: 2563–9

    Article  PubMed  CAS  Google Scholar 

  5. Torres RJ, Puig JG (2007) Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis 2: 48

    Article  PubMed  Google Scholar 

  6. Jinnah HA, Visser JE, Harris JC et al (2006) Delineation of the motor disorder of Lesch-Nyhan disease. Oxford University Press on behalf of the Guarantors of Brain. 129: 1201–17

    CAS  Google Scholar 

  7. Jinnah HA, Ceballos-Picot I, Torres RJ et al (2010) Attenuated variants of Lesch-Nyhan disease. Oxford University Press on behalf of the Guarantors of Brain. 133: 671–89

    CAS  Google Scholar 

  8. Torres RJ, Puig JG, Ceballos-Picot I (2010) Clinical utility gene card for: Lesch-Nyhan syndrome. European Journal of Human Genetics 109

    Google Scholar 

  9. Sahota AS, Tischfield JA, Kamatani N, Simmonds HA (2001) Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxylithiasis. ln: Scriver CR, AL Beaudet, WS Sly, Valle D, eds, The metabolic and molecular bases of inherited disease, vol II. McGraw-Hill, New York, pp 2571–84

    Google Scholar 

  10. Bollée G, Dollinger C, Boutaud L et al (2010) Phenotype and Genotype Characterization of Adenine Phosphoribosyltransf erase Deficiency. J Am Soc Nephrol 21: 679–88

    Article  PubMed  Google Scholar 

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De Lonlay, P., Dubois, S., Valayannopoulos, V., Depondt, E., Ottolenghi, C., Rabier, D. (2013). Anomalies du métabolisme des purines et pyrimidines. In: Prise en charge médicale et diététique des maladies héréditaires du métabolisme. Springer, Paris. https://doi.org/10.1007/978-2-8178-0046-2_29

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  • DOI: https://doi.org/10.1007/978-2-8178-0046-2_29

  • Publisher Name: Springer, Paris

  • Print ISBN: 978-2-8178-0045-5

  • Online ISBN: 978-2-8178-0046-2

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