| Remarks |
Clinically affected, onset of symptoms at age 18; presence of argininiosuccinic acid in blood or urine; elevated cirulline and arginosuccinic acid; Treatments include: citrulline arginine scavenger,citrulline arginine supplement, and protein restriction; ADHD; mental retardation/developmental delay; learning disabilities; normal neurological evaluation at age 6; psychological evaluation at age 18: Wechsler IQ/DQ score of 70; mental age is 3.5 years. |