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Case Reports
. 1984 Dec;59(12):1183-5.
doi: 10.1136/adc.59.12.1183.

Successful treatment of severe carbamyl phosphate synthetase I deficiency

M Van de Bor, P Mooy, D van Zoeren, R Berger, H H van Gelderen, H L Teijema
Case Reports

Successful treatment of severe carbamyl phosphate synthetase I deficiency

M Van de Bor et al. Arch Dis Child. 1984 Dec.

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.

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References

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