EC 2.4.2.8 HPRT1 2 reactions
Lesch-Nyhan syndrome: hyperuricaemia, self-mutilation, choreoathetosis, intellectual disability
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Lesch-Nyhan syndrome: hyperuricaemia, self-mutilation, choreoathetosis, intellectual disability
Committed step of purine synthesis; feedback-inhibited by AMP/GMP; azaserine site
Hereditary orotic aciduria: megaloblastic anaemia unresponsive to B12/folate; treat with uridine
Showing all 5 enzymes.