Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency

@article{Gessler2009FavourableLO,
  title={Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency},
  author={Peter Gessler and Peter Buchal and Hans U. Schwenk and Bendicht Wermuth},
  journal={European Journal of Pediatrics},
  year={2009},
  volume={169},
  pages={197-199}
}
N-Acetylglutamate synthase (NAGS) deficiency is a rare urea cycle disorder, which may present in the neonatal period with severe hyperammonemia and marked neurological impairment. We report on a Turkish family with a patient who died due to hyperammonemia in the neonatal period. Reduced activity of NAGS and carbamyl phosphate synthetase were found at autopsy. A second child who developed hyperammonemia on the second day of life was immediately treated with arginine hydrochloride, sodium… CONTINUE READING
18 Citations
15 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 18 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 15 references

Urea cycle enzymes

  • SW Brusilow, AL Horwich
  • 2001
2 Excerpts

Similar Papers

Loading similar papers…