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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1628919 | PMC |
| http://dx.doi.org/10.1136/adc.59.12.1183 | DOI Listing |
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