| Cerebrospinal fluid as a tool in the diagnosis of neurometabolic diseases: amino acid analysis before and after acid hydrolysis. | |
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MedLine Citation:
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PMID: 7957393 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 gamma-glutamylglutamine. As a consequence, we strongly recommend incorporating of this approach in the investigation of all children with unclear neurological disease. |
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Authors:
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J Jaeken |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: European journal of pediatrics Volume: 153 ISSN: 0340-6199 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 1994 |
Date Detail:
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Created Date: 1994-12-27 Completed Date: 1994-12-27 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: GERMANY |
Other Details:
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Languages: eng Pagination: S86-9 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University of Leuven, Belgium. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Amino Acids / cerebrospinal fluid* Brain Diseases, Metabolic / cerebrospinal fluid, diagnosis* Child Child, Preschool Humans Hydrolysis Infant Infant, Newborn Metabolism, Inborn Errors / diagnosis* |
| Chemical | |
Reg. No./Substance:
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0/Amino Acids |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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