The combination of transcriptomics with metabolite quantification and in-depth gene expression mining provides a molecular basis for decrease in bioenergetic availability and neuronal projection observed in AGC1 deficiency patients, and may constitute the ground for future research, biomarker elucidation, and target identification to develop a pharmacological strategy to mitigate the effects of this diseases in vivo. Here, SLC25A12 is linked to hyperinsulinemic hypoglycemia, familial, 4.