argininosuccinic aciduria

argininosuccinic aciduria

a disorder resulting from an inborn error of metabolism that is characterized by the presence of argininosuccinic acid in the urine, blood, and cerebrospinal fluid and that sometimes leads to epilepsy and intellectual disability. Treatment is based on control of protein intake to prevent hyperammonemia. The trait is transmitted by an autosomal recessive gene, ASL, on chromosome 7.