Target disorders from the study panel were confirmed in 28 children: 1 HMG-CoA-lyase-deficiency, 1 citrullinaemia type I, 3 multiple acyl-CoA dehydrogenase-deficiency, 1 MTHFR-deficiency, 2 OTC-deficiency, and 21 children with maternal vitamin B12-deficiency (one child with MAD-deficiency + vitamin B12 deficiency). Here, HMGCL is linked to hyperinsulinemic hypoglycemia, familial, 4.