Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency

@article{SchollBuergi2008AminoAI,
  title={Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency},
  author={Sabine Scholl-Buergi and Sara Baumgartner Sigl and Johannes H{\"a}berle and Edda Haberlandt and Kevin Rost{\'a}sy and Carl Ertl and U. Eichinger-{\"O}ttl and Peter Heinz-Erian and Daniela Karall},
  journal={Journal of Inherited Metabolic Disease},
  year={2008},
  volume={31},
  pages={323-328}
}
We report the CSF and plasma amino acid concentrations and their ratios in a male patient with arginase1 deficiency with an unusual early presentation at 34 days of age. He developed hyperammonaemic coma (ammonia >400 μmol/L; normal <90 μmol/L) on postnatal day 35. CSF and plasma concentrations were assayed by ion-exchange chromatography on day 36. Arginine… CONTINUE READING