Unstable HPRTase in Subjects with Abnormal Urinary Oxypurine Excretion
Several genetic defects have been recognized which have presented different levels of residual IMP pyrophosphorylase (HPRTase) activity and concomitant modifications of the clinical manifestations. The most extreme is Lesch-Nyhan disease with little or no detectable enzyme in the red cells and severe neurological damage.1 If the enzyme deficiency is less complete, there may be only overproduction of uric acid and gout.
KeywordsDouble Diffusion Gout Patient Public Health Service Research Detectable Enzyme Concomitant Modification
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