Clinical feature: 

Definition: 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.

Literature: 

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