Using targeted next-generation sequencing (NGS) with the Agilent SureSelect XT Inherited Disease Panel (Agilent Technologies, Inc., Santa Clara, CA, USA), all of the patients were confirmed to harbor pathogenic variants in the FBP1 gene (NM_000507.3) and were diagnosed with FBPase deficiency. Here, FBP1 is linked to hyperinsulinemic hypoglycemia, familial, 4.