Application of metabolomic principles to disorders of nucleotide metabolism reveals new metabolic perturbations
| Autor: | Robert J. Carter, Kevin B. Mantik, Ernest Fung, Stephen D. Hodges, Floyd F. Snyder |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Hypoxanthine Phosphoribosyltransferase
Dihydropyrimidine Dehydrogenase Deficiency Adenosine Deaminase Adenine phosphoribosyltransferase Adenine Phosphoribosyltransferase Biochemistry Serine Adenosine deaminase Metabolic Diseases Carnitine Genetics Dihydropyrimidine dehydrogenase Humans Amino Acids Dihydrouracil Dehydrogenase (NADP) chemistry.chemical_classification biology Nucleotides Genetic Diseases Inborn Ninhydrin General Medicine Molecular biology Amino acid chemistry Hypoxanthine-guanine phosphoribosyltransferase biology.protein Molecular Medicine Isoleucine |
| Zdroj: | Nucleosides, nucleotidesnucleic acids. 27(6) |
| ISSN: | 1532-2335 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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