Article Text

PDF

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

    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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.