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Scholl-Bürgi, S; Baumgartner Sigl, S; Häberle, J; Haberlandt, E; Rostásy, K; Ertl, C; Eichinger-Öttl, U; Heinz-Erian, P; Karall, D (2008). Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. Journal of Inherited Metabolic Disease, 31(S2):323-328.

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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 mumol/L; normal <90 mumol/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 mumol/L; controls (mean +/- 2SD) 50 +/- 42) and in CSF (157 mumol/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 mumol/L; controls 470 +/- 236) but normal in plasma (420 mumol/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.


4 citations in Web of Science®
8 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Deposited On:26 Jan 2010 08:57
Last Modified:05 Apr 2016 13:48
Additional Information:The original publication is available at www.springerlink.com
Publisher DOI:10.1007/s10545-008-0903-0
PubMed ID:19052914

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