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dysfunction. Implication of hypoxanthine in the morphogenesis impairment and proliferation enhancement in cultured HPRT deficient neuroblastoma cells, a neuronal model of LND, has also been proposed [ 73 ]. Intrastriatal hypoxanthine administration to 60-day-old rats altered neuroenergetic parameters, resulting in ATP depletion and mitochondrial dysfunction and cell death by apoptosis, suggesting that these processes may be associated, at least in part, with neurological symptoms found in LND patients [ 74 ].
Deficit of other purine compounds due to HPRT defect is