Literature DB >> 6524951

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.   

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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Year:  1984        PMID： 6524951      PMCID： PMC1628919          DOI： 10.1136/adc.59.12.1183

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  3 in total

1.  Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver.

Authors:  G W BROWN; P P COHEN
Journal:  J Biol Chem       Date:  1959-07       Impact factor: 5.157

2.  Long-term management of a case of carbamyl phosphate synthetase deficiency using ketanalogues and hydroxyanalogues of essential amino acids.

Authors:  M L Batshaw; S Brusilow; M Walser
Journal:  Pediatrics       Date:  1976-08       Impact factor: 7.124

3.  Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.

Authors:  M L Batshaw; S Brusilow; L Waber; W Blom; A M Brubakk; B K Burton; H M Cann; D Kerr; P Mamunes; R Matalon; D Myerberg; I A Schafer
Journal:  N Engl J Med       Date:  1982-06-10       Impact factor: 91.245
  3 in total
  1 in total

1.  Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency.

Authors:  M Tuchman; S M Mauer; R A Holzknecht; M L Summar; C L Vnencak-Jones
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
  1 in total

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