Abstract
Lesch-Nyhan Syndrome (LNS) is an X-linked disease caused by deficiency of hypoxanthine-guanine phosphoribosyl transferase (HPRT; EC 2.4.2.8). Predictably this results in excessive de novo synthesis of purines which in turn leads to hyperuricaemia, gout, renal failure and its consequences. The syndrome is also characterised by extrapyramidal movement disorders, self-mutilatory behaviour (SMB) and mental retardation, the pathogenesis of which is uncertain. However, HPRT activity is high in normal brain tissue, particularly the basal ganglia, which suggests dependence of these areas on purine salvage pathways.
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© 1991 Plenum Press, New York
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Williamson, D.J. et al. (1991). Analysis of Forebrain Dopaminergic Pathways in HPRT — Mice. In: Harkness, R.A., Elion, G.B., Zöllner, N. (eds) Purine and Pyrimidine Metabolism in Man VII. Advances in Experimental Medicine and Biology, vol 309B. Springer, New York, NY. https://doi.org/10.1007/978-1-4615-7703-4_60
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DOI: https://doi.org/10.1007/978-1-4615-7703-4_60
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