Lesch-Nyhan Syndrome: Reduced Amino Acid Concentrations in CSF and Brain
The abnormal function of the central nervous system in the Lesch-Nyhan syndrome (McKusick, 30800) due to an isolated deficiency of the purine salvage enzyme hypoxanthine guanine phosphor ibosyltransf erase, HPRT (EC 2.4. 2.8) has been difficult to understand despite the postnatal development of high specific activity in the brain.
KeywordsAmino Acid Concentration Postnatal Development Lesch Nyhan Syndrome HPRT Deficiency Brain Gaba Level
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