Neonatal presentation of adult-onset type II citrullinemia

Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-speci fic argininosuccinate synthetase deficiency caused by a deficiency of the c itrin protein encoded by the SLC25A13 gene. Until now, however, no SLC25A13 mutations have been reported in children with liver diseases. We described three infants who presented as neonates with intrahepatic cholestasis asso ciated with hypermethioninemia or hypergalactosemia detected by neonatal ma ss screening. DNA analyses of SLC25A13 revealed that one patient was a comp ound heterozygote for the 851del4 and IVS11+1G-->A mutations and two patien ts (siblings) were homozygotes for the IVS11+1G-->A mutation. These results suggested that there may be a variety of liver diseases related to CTLN2 i n children.