Remarks |
Clinically affected; symptom onset at age 4 years; ADHD; learning disabilities; past hyperammonemic events; fivefold elevation above mean of plasma ornithine and of homocitrulline in urine; 16% residual enzyme activity; Wechsler exam showed an IQ of 84; neurological evaluation found tone changes; treatments include: citrulline arginine supplement, benzoate, sodium phenylbutyrate, and protein restriction. |