Abstract
Additional adenine and folic acid are required for optimal growth of hypoxanthine-guaine phosphoribosyltransferase (HGPRT) deficient fibroblasts in tissue culture(1). On this ground adenine therapy was advised in Lesch-Nyhan (LN) syndrome and resulted in a prompt correction of megaloblastic anemia in two cases(2). In mammalian tissue adenine is easily converted into adenosine monophosphat by adenine phosphoribosyltransferase, utilizing 5-phosphoribosylpyrophosphate (PRPP). “Inappropriate” purine biosynthesis “de novo” in ln syndrome can be just accounted for an increased availability of PRPP due to missing competition between HGPRT and glutamine-PRPP-amidotransferase for this substrate(3–5). Consequently PRPP consumption from adenine is likely to result in a decreased purine biosynthesis, as proved by lesser incorporation of 14C-glycine in urinary uric acid (ua)(2). Nevertheless adenine therapy showed conflicting evidence of inhibiting purine biosynthesis, since a decrease of urinary ua was not evidenced in two cases in spite of a reduction of erythrocyte PRPP(6). Therefore we think that any further contribution on this topic is of some interest.
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References
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© 1974 Springer Science+Business Media New York
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Ceccarelli, M., Ciompi, M.L., Pasero, G. (1974). Acute Renal Failure During Adenine Therapy in Lesch-Nyhan Syndrome. In: Sperling, O., De Vries, A., Wyngaarden, J.B. (eds) Purine Metabolism in Man. Advances in Experimental Medicine and Biology, vol 41. Springer, New York, NY. https://doi.org/10.1007/978-1-4757-1433-3_38
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DOI: https://doi.org/10.1007/978-1-4757-1433-3_38
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