The pathogenicity of these mutations is evident because the symptoms are highly similar to those in previous reports of ACO2 deficiency (Abela et al., 2017; Marelli et al., 2018; Metodiev et al., 2014; Sadat et al., 2016; Spiegel et al., 2012; Srivastava et al., 2017). This evidence concerns the gene ACO2 and hyperinsulinemic hypoglycemia, familial, 4.