One reason for this discrepancy is that in countries where NBS for CPT II deficiency has been conducted, the prevalence of CPT II deficiency is low [8]; however, this may be explained partially by the difficulty in detecting the myopathic form caused by the mild variant p.S113L that is prevalent among populations of European descent [1]. Here, CPT2 is linked to hyperinsulinemic hypoglycemia, familial, 4.