Abstract
We describe a girl with neonatal hyperammonaemia due to carbamyl phosphate synthetase I deficiency. Treatment consisted of protein restriction from the second day of life. Sodium benzoate was given for three weeks after birth and again from 7 months of age together with sodium phenylacetate to improve protein tolerance. Growth and development are normal at 15 months of age.
MeSH terms
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Amino Acid Metabolism, Inborn Errors / diet therapy*
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Amino Acid Metabolism, Inborn Errors / drug therapy
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Ammonia / blood
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Benzoates / therapeutic use
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Benzoic Acid
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Carbamoyl-Phosphate Synthase (Ammonia) / deficiency*
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Dietary Proteins / administration & dosage
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Female
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Humans
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Infant, Newborn
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Ligases / deficiency*
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Phenylacetates / therapeutic use
Substances
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Benzoates
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Dietary Proteins
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Phenylacetates
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Ammonia
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Benzoic Acid
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Ligases
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Carbamoyl-Phosphate Synthase (Ammonia)
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phenylacetic acid