Adenylosuccinate lyase (ADSL) is an essential enzyme for de novo purine biosynthesis, ADSL functions in de novo purine synthesis (DNPS) and the purine nucleotide cycle. Adenylosuccinate lyase ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways.
TMPY-02552
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