Overall, in this group, one patient was diagnosed with progressive familial intrahepatic cholestasis type 3 (PFIC-3), one patient was diagnosed with bile acid synthesis defect (CYP27A1 deficiency), and one patient was diagnosed with mitochondrial depletion syndrome (DGUOK deficiency). The gene discussed is CYP27A1; the disease is hyperinsulinemic hypoglycemia, familial, 4.