In this research, we aimed to advance the phenotypic characterization of MMP-2 deficiency by identifying molecular traits that are similarly dysregulated in MMP-2 deficient patients and Mmp2–/– mice which are the standard study model for the rare multisystem pediatric syndrome elicited by MMP-2 deficiency in humans. This evidence concerns the gene MMP2 and hyperinsulinemic hypoglycemia, familial, 4.