Results: The results revealed that 404 of 32,768 neonates received a second-tier test for citrin deficiency and one patient was identified with c.851del4/IVS6+5 G>A compound heterozygous mutation, 10 carriers with mutants c.851del4 (n = 4), IVS 6+5G>A (n = 3), IVS16ins3kb (n = 1), c.1156G>A (n = 1) and c.1658G>A (n = 1). The gene discussed is SLC25A13; the disease is hyperinsulinemic hypoglycemia, familial, 4.