Abstract
Purine metabolism in the central nervous system (CNS) is characterized by: (i) reduced de novo purine synthesis (1), (ii) increased HPRT activity (2), and (iii) absence of detectable xanthine oxidase activity (3, 4). These facts determine that, instead of uric acid, the end products of purine nucleotide degradation in the CNS are hypoxanthine for adenine nucleotides and xanthine for guanine nucleotides (2, 5). On the other hand, HPRT hyperactivity seems to be essential to salvage an important amount of hypoxanthine for purine nucleotide synthesis. Hypoxanthine transport from blood to the brain could be another important source for the synthesis of purine nucleotides in the CNS (6, 7). The devastating neurological manifestations of complete HPRT deficiency suggest that hypoxanthine salvage is important for adequate neuronal function (8).
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Jiménez, M.L., Puig, J.G., Mateos, F.A., Ramos, T.H., Castroviejo, I.P., Vázquez, J.O. (1989). Hypoxanthine and Xanthine Transport through the Blood-Brain Barrier in Hypoxanthine Phosphoribosyltransferase (HPRT) Deficiency. In: Mikanagi, K., Nishioka, K., Kelley, W.N. (eds) Purine and Pyrimidine Metabolism in Man VI. Advances in Experimental Medicine and Biology, vol 253A. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5673-8_28
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DOI: https://doi.org/10.1007/978-1-4684-5673-8_28
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