Interpretation of plasma amino acids in the follow-up of patients: the impact of compartmentation

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It was possible to publish this article open access thanks to a Swiss National Licence with the publisher.
Serval ID
serval:BIB_99B89DC60D73
Type
Article: article from journal or magazin.
Publication sub-type
Minutes: analyse of a published work.
Collection
Publications
Institution
Title
Interpretation of plasma amino acids in the follow-up of patients: the impact of compartmentation
Journal
Journal of Inherited Metabolic Disease
Author(s)
Bachmann C.
ISSN
1573-2665
Publication state
Published
Issued date
2008
Peer-reviewed
Oui
Volume
31
Number
1
Pages
7-20
Language
english
Abstract
Results of plasma or urinary amino acids are used for suspicion, confirmation or exclusion of diagnosis, monitoring of treatment, prevention and prognosis in inborn errors of amino acid metabolism. The concentrations in plasma or whole blood do not necessarily reflect the relevant metabolite concentrations in organs such as the brain or in cell compartments; this is especially the case in disorders that are not solely expressed in liver and/or in those which also affect nonessential amino acids. Basic biochemical knowledge has added much to the understanding of zonation and compartmentation of expressed proteins and metabolites in organs, cells and cell organelles. In this paper, selected old and new biochemical findings in PKU, urea cycle disorders and nonketotic hyperglycinaemia are reviewed; the aim is to show that integrating the knowledge gained in the last decades on enzymes and transporters related to amino acid metabolism allows a more extensive interpretation of biochemical results obtained for diagnosis and follow-up of patients and may help to pose new questions and to avoid pitfalls. The analysis and interpretation of amino acid measurements in physiological fluids should not be restricted to a few amino acids but should encompass the whole quantitative profile and include other pathophysiological markers. This is important if the patient appears not to respond as expected to treatment and is needed when investigating new therapies. We suggest that amino acid imbalance in the relevant compartments caused by over-zealous or protocol-driven treatment that is not adjusted to the individual patient's needs may prolong catabolism and must be corrected
Keywords
Affect , Amino Acid Metabolism,Inborn Errors , Amino Acids , analysis , blood , Brain , Brain Chemistry , Cell Compartmentation , chemistry , complications , diagnosis , Follow-Up Studies , Humans , metabolism , Models,Biological , Neurotransmitter Agents , Patients , Phenylalanine , Phenylketonurias , physiology , Plasma , Prognosis , Proteins , Switzerland , therapy , Urea
Pubmed
Web of science
Open Access
Yes
Create date
29/01/2009 22:13
Last modification date
01/10/2019 6:18
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