Abstract
Inherited superactivity of PRPP synthetase is an unusual cause of purine overproduction, hyperuricemia, gout and uric acid urolithiasis (1) that is seldom associated to neurological symptoms. We know of 3 reported families in which both hemizygous males and heterozygous females have had evidence of uric acid overproduction and neurological deficits, including sensorineural deafness (2–5).
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© 1989 Plenum Press, New York
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Jiménez, M.L. et al. (1989). Increased Purine Nucleotide Degradation in the Central Nervous System (CNS) in PRPP Synthetase Superactivity. 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_2
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DOI: https://doi.org/10.1007/978-1-4684-5673-8_2
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