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individuals with COQ4 mutations presenting with infantile-onset disease where spastic paraplegia is the predominant feature [83,96,108]
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Less common presentations of gout are associated with overproduction of uric acid, which can be caused by increased activity of PRPP synthetase or deficiency in purine recycling enzyme HGPRT caused by Lesch-Nyhan syndrome (figure 7.10)
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