Citrin deficiency that is caused by biallelic SLC25A13 mutations is an autosomal recessive disease and can present as neonatal intrahepatic cholestasis (NICCD; OMIM, 605814) in infants or as adult-onset citrullinemia type II (CTLN2; OMIM, 603471) in adolescents and adults (4, 5). Here, SLC25A13 is linked to citrin deficiency.