Excessive, high levels of citrulline in the blood. Citrulline is a metabolite formed from ornithine and carbamyl phosphate. Citrulline accumulates in a genetic disease caused by the mutation in the gene for arginosuccinate synthetase.
An inborn lack of one of the enzymes concerned with the chemical breakdown of proteins to urea: in consequence both the amino acid citrulline and ammonia accumulate in the blood. Affected children fail to thrive, and show signs of mental retardation.
A type of aminoaciduria accompanied by increased amounts of citrulline in the blood, urine, and spinal fluid. Clinical findings include ammonia intoxication, liver disease, vomiting, mental retardation, convulsions, and failure to thrive.