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Mol Genet Metab. 2005 May;85(1):78-80. Epub 2005 Feb 16.

Normal HPRT coding region in a male with gout due to HPRT deficiency.

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  • 1Department of Medicine, University of Queensland, Princess Alexandra Hospital, Brisbane, Qld 4102, Australia. paul.dawson@uq.edu.au


A deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT; EC is associated with a spectrum of disease that ranges from gouty arthritis (OMIM 300323) to the more severe Lesch-Nyhan syndrome (OMIM 300322). To date, all cases of HPRT deficiency have shown a mutation within the HPRT cDNA. In the present study of an individual with gout due to HPRT deficiency, we found a normal HPRT cDNA sequence. This is the first study to provide an example of HPRT deficiency which appears to be due to a defect in the regulation of the gene.

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