Pathogenesis

Mutations in the HPRT gene on the X chromosome lead to deficiency of hypox-anthine-guanine phosphoribosyl trans-ferase (HPRT), which plays a key role in the recycling of the purine bases, hypoxanthine and guanine, into the purine nucleotide pools; with absence of HPRT, purine bases not salvaged, but degraded and excreted as uric acid; synthetic rate for purines accelerated markedly, to compensate for purines lost by the failure of the salvage process, resulting in overproduction of uric acid; pathogenesis of neurological and behavioral features unclear

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