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  • Title: Identification of the metabolic defect in sialuria.
    Author: Weiss P, Tietze F, Gahl WA, Seppala R, Ashwell G.
    Journal: J Biol Chem; 1989 Oct 25; 264(30):17635-6. PubMed ID: 2808337.
    Abstract:
    Sialuria is a rare inborn error of metabolism, the hallmarks of which are moderate developmental retardation, coarse facial features, and an enormous amount of free N-acetylneuraminic acid (sialic acid) in the urine. Until now, the basic biochemical defect in this disorder has remained uncertain. In this report, the activity of the rate-limiting enzyme in the biosynthesis of sialic acid has been measured directly in whole cell lysates by a highly sensitive assay. With this technique, the basic defect in sialuria has been identified unequivocally as the loss of feedback control of uridine diphosphate N-acetylglucosamine 2-epimerase by cytidine monophosphate N-acetylneuraminic acid with resultant overproduction of sialic acid.
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