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.