Article Text


Successful treatment of severe carbamyl phosphate synthetase I deficiency.
  1. M Van de Bor,
  2. P Mooy,
  3. D van Zoeren,
  4. R Berger,
  5. H H van Gelderen,
  6. H L Teijema


    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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