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

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

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2008-12, Vol.31 (Suppl 2), p.323-328
Main Authors: Scholl-Bürgi, S., Baumgartner Sigl, S., Häberle, J., Haberlandt, E., Rostásy, K., Ertl, C., Eichinger-Öttl, U., Heinz-Erian, P., Karall, D.
Format: Article
Language:English
Subjects:
Adult
Amino Acids - blood
Amino Acids - cerebrospinal fluid
Ammonia - blood
Arginine - blood
Arginine - cerebrospinal fluid
Biochemistry
Biomarkers - blood
Biomarkers - cerebrospinal fluid
Chromatography, Ion Exchange
Coma - blood
Coma - cerebrospinal fluid
Coma - etiology
Glutamine - blood
Glutamine - cerebrospinal fluid
Human Genetics
Humans
Hyperammonemia - blood
Hyperammonemia - cerebrospinal fluid
Hyperammonemia - etiology
Hyperargininemia - blood
Hyperargininemia - cerebrospinal fluid
Hyperargininemia - complications
Internal Medicine
Lysine - blood
Lysine - cerebrospinal fluid
Male
Medicine
Medicine & Public Health
Metabolic Diseases
Online Report
Ornithine - blood
Ornithine - cerebrospinal fluid
Pediatrics
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Description
Summary: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
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-008-0903-0