These included 2 cases (18.2%, n = 2/11) of methylmalonic encephalopathy followed by 1 case (9.1%, n = 1/11) each of carnitine acylcarnitine translocase deficiency, Hartnup disorder, HMG-CoA lyase deficiency, HMG-CoA synthase-2 deficiency, maple syrup urine disease type IA, methylmalonic aciduria, methylmalonic aciduria type mut (0), ornithine transcarbamylase deficiency, and tyrosinemia type 1, respectively (Additional file 3). This evidence concerns the gene HMGCS2 and hyperinsulinemic hypoglycemia, familial, 4.