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citrullinemia

MIM.215700 9q34.1

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.

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