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.
Fiermonte G et al. (2008) An adult with type 2 citrullinemia presenting in Europe.[^]
Orphanet articleOrphanet ID 247585 [^]
OMIM.ORG articleOmim 603471 [^]