| Application of metabolomic principles to disorders of nucleotide metabolism reveals new metabolic perturbations. | |
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MedLine Citation:
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PMID: 18600520 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A metabolomic analysis of plasma amino acids and acylcarnitines was applied to four disorders of nucleotide metabolism. Multivariate analysis gave score plots that show segregation of hypoxanthine phosphoribosyltransferase and adenine phosphoribosyltransferase deficient plasma from controls with equivocal results for adenosine deaminase and dihydropyrimidine dehydrogenase deficiencies. Loadings plots revealed the principal metabolites responsible for the discrimination between these classes. There were increases for HPRT in C4-, C6-, and C3-DC (malonyl)-carnitines, and decreased serine. For APRT there were increases in C4- to C10- and C3-DC to C6-DC-carnitines, urea, 1-methylhistidine, 3-methylhistidine, and decreased tryptophan. For ADA deficiency there were increases in C4- and C6-carnitines, taurine, and isoleucine. |
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Authors:
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Floyd F Snyder; Robert J Carter; Ernest Fung; Stephen D Hodges; Kevin B Mantik |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Nucleosides, nucleotides & nucleic acids Volume: 27 ISSN: 1532-2335 ISO Abbreviation: Nucleosides Nucleotides Nucleic Acids Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-07-07 Completed Date: 2008-10-30 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100892832 Medline TA: Nucleosides Nucleotides Nucleic Acids Country: United States |
Other Details:
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Languages: eng Pagination: 641-7 Citation Subset: IM |
Affiliation:
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Biochemical Genetics Laboratory, Department of Medical Genetics, University of Calgary and Alberta Children's Hospital, Calgary, Alberta, Canada. snyder@ucalgary.ca |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adenine Phosphoribosyltransferase
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deficiency,
metabolism Adenosine Deaminase / deficiency, metabolism Amino Acids / blood Carnitine / analogs & derivatives, blood Dihydrouracil Dehydrogenase (NADP) / deficiency, metabolism Genetic Diseases, Inborn / metabolism Humans Hypoxanthine Phosphoribosyltransferase / deficiency, metabolism Metabolic Diseases / metabolism* Ninhydrin / metabolism Nucleotides / metabolism* |
| Chemical | |
Reg. No./Substance:
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0/Amino Acids; 0/Nucleotides; 0/acylcarnitine; 485-47-2/Ninhydrin; 541-15-1/Carnitine; EC 1.3.1.2/Dihydrouracil Dehydrogenase (NADP); EC 2.4.2.7/Adenine Phosphoribosyltransferase; EC 2.4.2.8/Hypoxanthine Phosphoribosyltransferase; EC 3.5.4.4/Adenosine Deaminase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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