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J Biol Chem. 1989 Oct 25;264(30):17635-6.

Identification of the metabolic defect in sialuria.

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  • 1National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892.


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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