citrullinemia
MIM.215700 9q34.1
Citrullinemia is an autosomal recessive disease caused by a deficiency of argininosuccinate synthetase and characterized primarily by elevated serum and urine citrulline levels.
Types
classic citrullinemia (CTLN1; MIM.215700) is caused by mutation in the gene encoding argininosuccinate synthetase (ASS; MIM.603470).
neonatal-onset type 2 citrullinemia (MIM.605814) is caused by mutation in the SLC25A13 gene (MIM.603859) (or intrahepatic neonatal cholestasis caused by citrin deficiency)
adult-onset type 2 citrullinemia (MIM.603471) is caused by mutation in the same SLC25A13 gene (MIM.603859).
Etiology
classic citrullinemia is caused by mutations in the gene encoding argininosuccinate synthetase (ASS) (MIM.603470).
See also
urea cycle diseases