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Clinically affected;onset of symptoms at age 18 years;elevated ammonia and orotic acid in blood;communication disorder;learning disabilities;mental retardation with developmental delay;mood disorder;past hyperammonemic events;neurological evaluation at age 4 showed dystonia and tone changes;on citrulline arginine supplement;benzoate and sodium phenylbutyrate;protein restriction;donor subject is heterozygous for a 1 bp deletion in intron 6 of the OTC gene (IVS6+1delG)
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