Citrullinemia type 2

Citrullinemia is an autosomal recessive urea cycle disorder (UCD) caused by a deficiency of the cytoplasmic enzyme argininosuccinate synthetase (ASS) that results in an accumulation of citrulline, the substrate of the enzyme, and ammonia as in all UCD.

Systematic

Citrullinemia
	Citrullinemia type 1
	Citrullinemia type 2
		SLC25A13

References:

1.	Fiermonte G et al. (2008) An adult with type 2 citrullinemia presenting in Europe.

2.	Orphanet article Orphanet ID 247585

3.	OMIM.ORG article Omim 603471