Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency.
J Inherit Metab Dis
; 31 Suppl 2: S323-8, 2008 Dec.
Article
en En
| MEDLINE
| ID: mdl-19052914
ABSTRACT
UNLABELLED 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.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Coma
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Hiperargininemia
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Hiperamonemia
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Aminoácidos
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Amoníaco
Límite:
Adult
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Humans
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Male
Idioma:
En
Revista:
J Inherit Metab Dis
Año:
2008
Tipo del documento:
Article
País de afiliación:
Austria