Summary
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 was increased both in plasma (971 μmol/L; controls (mean ± 2SD) 50 ± 42) and in CSF (157 μmol/L; controls 19 ± 8.6), resulting in a normal CSF/plasma ratio of 0.16 (controls 0.41 ± 0.26). Interestingly, glutamine was disproportionately high in CSF (3114 μmol/L; controls 470 ± 236) but normal in plasma (420 μmol/L; controls 627 ± 246); the ratio exceeded unity (7.4; controls 0.76 ± 0.31). The CSF/plasma ratios of most neutral amino acids were elevated but not those of the imino- and of the dibasic amino acids lysine and ornithine. The mechanism leading to the increase of most neutral amino acids in brain is not known.
Conclusion: A normal glutamine in plasma does not exclude an increased concentration in CSF; it could be useful to ascertain by MRS that a high CSF glutamine concentration truly reflects a high concentration in brain tissue for better understanding its pathogenesis.
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Abbreviations
- CSF:
-
cerebrospinal fluid
- EEG:
-
electroencephalography
- MRS:
-
magnetic resonance spectroscopy
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Communicating editor: Claude Bachmann
Competing interests: None declared
References to electronic databases: Hyperargininaemia: OMIM 207800. Arginase1: EC 3.5.3.1.
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Scholl-Bürgi, S., Baumgartner Sigl, S., Häberle, J. et al. Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. J Inherit Metab Dis 31 (Suppl 2), 323–328 (2008). https://doi.org/10.1007/s10545-008-0903-0
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DOI: https://doi.org/10.1007/s10545-008-0903-0