Thursday 25 September 2008
Citrullinemia is an autosomal recessive disease caused by a deficiency of argininosuccinate synthetase and characterized primarily by elevated serum and urine citrulline levels.
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).
classic citrullinemia is caused by mutations in the gene encoding argininosuccinate synthetase (ASS) (MIM.603470).
urea cycle diseases