Identification of the metabolic defect in sialuria

P Weiss, F Tietze, WA Gahl, R Seppala… - Journal of Biological …, 1989 - ASBMB
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 …