She was identified via newborn screening for metabolic disorders without clinical symptoms and was genetically diagnosed with citrin deficiency with compound heterozygotes of c.674C>CA; p.[Ser225Ter] in Exon7; and lVS16ins3 kb in intron 16 of the SLC25A13 gene on chromosome 7q21.3. The gene discussed is SLC25A13; the disease is metabolic disease.