Citrullinemia type 1

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
		ASS1
	Citrullinemia type 2

References:

1.	Keskinen P et al. (2008) Hereditary urea cycle diseases in Finland.

2.	OMIM.ORG article Omim 215700

3.	Orphanet article Orphanet ID 247525