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SummaryA patient with recurrent episodes of hyperammonaemia (highest ammonia level recorded 229 μmol/L, normal 9–33) leading to altered levels of consciousness was diagnosed with partial N-acetylglutamate synthase (NAGS) deficiency (9% residual activity) at age 5 years and was treated with ammonia-conjugating agents (Ucephan 250 mg/kg per day and later sodium phenylbutyrate 200–250 mg/kg per day)...
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