For cases with a final diagnosis of hypergalactosemia, 18 cases (12%) showed enzyme deficiency including heterozygotes, 44 cases (29%) were CPSS, 7 cases (5%) were citrin deficiency, 83 cases (54%) were transient cases, and 1 case (1%) involved biliary atresia. The gene discussed is SLC25A13; the disease is biliary atresia.