Abstract
There have been many exciting developments in this field since the 1st International Symposium was held in Tel Aviv in 1973. Such progress is all the more remarkable considering that the metabolic basis for the first such genetic defects, xanthinuria and hereditary oroticaciduria, was established as recently as 1959 and by 1973 the number had increased only to include complete or partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: HPRT) and superactivity of its companion X-linked disorder, phosphoribosylpyrophosphate synthetase (PRPS). Both owed their recognition then, as now, to the fact that they can present as gout, kidney stones or hyperuricaemia (1). Allopurinol had made its appearance as a uric acid lowering drug for treating hyperuricaemia, and the mechanisms of the altered renal urate handling in the so-called ‘primary gout’ of the middle aged male were being hotly debated.
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Simmonds, H.A. (1995). Diagnosis and Treatment of Inborn Errors of Purine and Pyrimidine Metabolism: An Overview. In: Sahota, A., Taylor, M.W. (eds) Purine and Pyrimidine Metabolism in Man VIII. Advances in Experimental Medicine and Biology, vol 370. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2584-4_1
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DOI: https://doi.org/10.1007/978-1-4615-2584-4_1
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