| HPLC analysis for the clinical-biochemical diagnosis of inborn errors of metabolism of purines and pyrimidines. | |
| | |
MedLine Citation:
|
PMID: 21207285 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
|
The determination of purines and pyrimidines in biofluids is useful for the clinical-biochemical characterization of acute and chronic pathological states that induce transient or permanent alterations of metabolism. In particular, the diagnosis of several inborn errors of metabolism (IEMs) is accomplished by the analysis of circulating and excreted purines and pyrimidines. It is certainly advantageous to simultaneously determine the full purine and pyrimidine profile, as well as to quantify other compounds of relevance (e.g., organic acids, amino acids, sugars) in various metabolic hereditary diseases, in order to screen for a large number of IEMs using a reliable and sensitive analytical method characterized by mild to moderate costs. Toward this end, we have developed an ion-pairing HPLC method with diode array detection for the synchronous separation of several purines and pyrimidines. This method also allows the quantification of additional compounds such as N-acetylated amino acids and dicarboxylic acids, the concentrations of which are profoundly altered in different IEMs. The application of the method in the analysis of biological samples from patients with suspected purine and pyrimidine disorders is presented to illustrate its applicability for the clinical-biochemical diagnosis of IEM. |
| | |
Authors:
|
Giuseppe Lazzarino; Angela Maria Amorini; Valentina Di Pietro; Barbara Tavazzi |
Related Documents
:
|
885795 - Semisynthetic beta-lactam antibiotics. ii. penicillins from alpha-hydrazinoarylacetic a... 2211905 - Ligand-exchange chromatography of alpha-trifluoromethyl-alpha-amino acids on chiral sor... 897215 - Synthesis of diastereomeric bis-unsaturated prostaglandins. 670205 - Cyclic forms of the alpha-keto acid analogs of arginine, citrulline, homoarginine, and ... 22417875 - Amperometric biosensor based on diamond paste for the enantioanalysis of l-lysine. 15995985 - Distribution of conjugated linoleic acid in total and subcellular fractions from normal... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Methods in molecular biology (Clifton, N.J.) Volume: 708 ISSN: 1940-6029 ISO Abbreviation: Methods Mol. Biol. Publication Date: 2011 |
Date Detail:
|
Created Date: 2011-01-05 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9214969 Medline TA: Methods Mol Biol Country: United States |
Other Details:
|
Languages: eng Pagination: 99-117 Citation Subset: IM |
Affiliation:
|
Division of Biochemistry and Molecular Biology, Department of Chemical Sciences, University of Catania, Catania, Italy. lazzarig@unict.it |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Analysis of organic acids and acylglycines for the diagnosis of related inborn errors of metabolism ...
Next Document: Bile acid analysis in various biological samples using ultra performance liquid chromatography/elect...