Biomarkers identified in inborn errors for lysine, arginine, and ornithine.

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  • Author(s): Saudubray JM;Saudubray JM; Rabier D
  • Source:
    The Journal of nutrition [J Nutr] 2007 Jun; Vol. 137 (6 Suppl 2), pp. 1669S-1672S.
  • Publication Type:
    Journal Article; Review
  • Language:
    English
  • Additional Information
    • Source:
      Publisher: Elsevier Country of Publication: United States NLM ID: 0404243 Publication Model: Print Cited Medium: Print ISSN: 0022-3166 (Print) Linking ISSN: 00223166 NLM ISO Abbreviation: J Nutr Subsets: MEDLINE
    • Publication Information:
      Publication: 2023- : [New York, NY] : Elsevier
      Original Publication: 1928-1933 : Springfield, Ill. : C. C. Thomas
    • Subject Terms:
      Amino Acid Metabolism, Inborn Errors/*metabolism ; Amino Acids/*metabolism ; Biomarkers/*metabolism; Arginine/metabolism ; Humans ; Lysine/metabolism ; Ornithine/metabolism
    • Abstract:
      Inborn errors of lysine, arginine, and ornithine metabolism are very rare: only a few patients affected with these disorders have been carefully investigated, and very few reports on long-term outcome are available. These rare data make it difficult to define safety limits of these amino acids and useful biomarkers from these disorders. Only 4 disorders give rise to an important increase of the plasma amino acid concentration proximal to the metabolic block: lysine in 2-aminoadipic semialdehyde synthase deficiency, arginine in arginase deficiency, ornithine in ornithine amino transferase deficiency, and hyperammonemia hyperornithinemia homocitrullinuria syndrome. There is an obvious discrepancy between the important physiological role of these amino acids in cell metabolism and nutrition and the clinical consequences that are actually observed in these disorders.
    • Number of References:
      8
    • Accession Number:
      0 (Amino Acids)
      0 (Biomarkers)
      94ZLA3W45F (Arginine)
      E524N2IXA3 (Ornithine)
      K3Z4F929H6 (Lysine)
    • Publication Date:
      Date Created: 20070522 Date Completed: 20070703 Latest Revision: 20230216
    • Publication Date:
      20231215
    • Accession Number:
      10.1093/jn/137.6.1669S
    • Accession Number:
      17513445