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Hypothesized Deficiency of Guanine-Based Purines May Contribute to Abnormalities of Neurodevelopment, Neuromodulation, and Neurotransmission in Lesch-Nyhan Syndrome

1 Jan 2005

Abstract excerpt

The Lesch-Nyhan syndrome is a devastating sex-linked recessive disorder resulting from almost complete deficiency of the activity of hypoxanthine phosphoribosyltransferase (HPRT). The enzyme deficiency results in an inability to synthesize the nucleotides guanosine monophosphate and inosine monophosphate from the purine bases guanine and hypoxanthine, respectively, via the "salvage" pathway and an accelerated...

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PMID: 15711436
DOI: 10.1097/01.wnf.0000152043.36198.25

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