Article
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
Nucleosides, nucleotides & nucleic acids - 1 Jun 2010
Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Tomida S, Naiki M, Wakamatsu N
Abstract excerpt
Inherited mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout. On the other hand, PRPS1 mutations cause PRPP synthetase superactivity associated with hyperuricemia and gout, sometimes including neurodevelopmental abnormalities. We have identified two mutations in two Lesch-Nyhan families after our last report. One of them, a new single...
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