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.
Keskinen P et al. (2008) Hereditary urea cycle diseases in Finland.[^]
OMIM.ORG articleOmim 215700 [^]
Orphanet articleOrphanet ID 247525 [^]