| Remarks |
Clinically affected; argininosuccinic lyase deficiency; past hyperammonemic events; presence of L-argininosuccinic acid in blood; elevated plasma amino acids: citrulline, argininosuccinic aciduria (ASA), and ASA anhydrides; developmental mental retardation; protein restriction; on citrulline arginine supplement, sodium phenylbutyrate and phenylacetate. |