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Successful treatment of severe carbamyl phosphate synthetase I deficiency. |
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| Authors: | M Van de Bor P Mooy D van Zoeren R Berger H H van Gelderen H L Teijema |
| 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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