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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Urinary excretion of N-acetyl amino acids in patients with some inborn errors of amino acid metabolism.

Urinary organic acid profiles of patients with Maple Syrup Urine Disease (MSUD), hereditary tyrosinemia and phenylketonuria (PKU) have been studied by means of capillary GC-MS-computer technique. In addition to the characteristic metabolites of these disorders, increased amounts of N-acetylleucine, N-acetylisoleucine and N-acetylvaline were found in MSUD-urine. Increased excretion of N-acetylphenylalanine occurred in PKU, and in tyrosinemia both the latter compound and increased N-acetyltyrosine excretion were observed. These results together with literature reports of similar studies on patients with other aminoacidopathies may indicate that most disorders which result in accumulation of one or more specific amino acids, will convert a small fraction of them into their corresponding N-acetyl derivative.[1]

References

  1. Urinary excretion of N-acetyl amino acids in patients with some inborn errors of amino acid metabolism. Jellum, E., Horn, L., Thoresen, O., Kvittingen, E.A., Stokke, O. Scand. J. Clin. Lab. Invest. Suppl. (1986) [Pubmed]
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