With the case series above, there is ongoing discussion regarding SAMe and NR therapy in a female PRPS1 deficiency patient at our institution who is significantly affected by developmental delay, ataxia, hearing loss, and retinal dystrophy, although additional research is needed to evaluate the effectiveness of SAMe and NR supplementation in PRPS1 deficiency. The gene discussed is PRPS1; the disease is hyperinsulinemic hypoglycemia, familial, 4.