ISSN:
1432-1076
Keywords:
Acid hydrolysis
;
Amino acid analysis
;
Cerebrospinal fluid
;
γ-Glutamylglutamine
;
Neurometabolic disease
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract We perform systematically amino acid analysis of the CSF before and after strong acid hydrolysis in children with unexplained neurological disease. By comparing the amino acid pattern before and after hydrolysis, defects can be traced in the metabolism not only of amino acids but also of purines, peptides, N-acetylated amino acids and peptides, and probably other compounds. This method has yielded important information such as the identification of two “new” diseases, GABA transaminase deficiency and adenylosuccinase deficiency, and the discovery of a peculiar, acid-labile double peak in the CSF of patients with the transient neonatal hyperammonaemia syndrome and with urea cycle defects. This substance was subsequently identified by others as γ-glutamylglutamine. As a consequence, we strongly recommend incorporating of this approach in the investigation of all children with unclear neurological disease.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02138784
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