Abstract
Superactivity of PRPP synthetase (EC 2.7.6.1), the enzyme catalyzing synthesis of the purine regulatory substrate PRPP from ATP and ribose-5-P, has been reported in nearly 2 dozen families to date (1–11). Enzyme superactivity is inherited as an X chromosome-linked trait (12–14), and, in the great majority of hemizygous affected males, clinical expression is limited to early adult-onset gout with or without urolithiasis. In 3 families, however, the purine nucleotide and uric acid overproduction invariably present in affected individuals (1–9) is accompanied by neurodevelopmental impairment, including sensorineural deafness (4, 15, 16). Also unique to these 3 families among all those with enzyme superactivity are the expression of the metabolic (as well as the neurologic) defects in infancy or childhood in male patients and the development of gout and/or hearing impairment among heterozygous females.
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© 1989 Plenum Press, New York
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Becker, M.A., Puig, J.G., Mateos, F.A., Jimenez, M.L., Kim, M., Simnonds, H.A. (1989). Neurodevelopmental Impairment and Deranged PRPP and Purine Nucleotide Synthesis in Inherited Superactivity of PRPP Synthetase. 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_3
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DOI: https://doi.org/10.1007/978-1-4684-5673-8_3
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