Clinical application of a new simple method for the identification of mucopolysaccharidoses

Abstract

The clinical application of a new method for the quantitative determination of urinary glycosaminoglycans (GAGs) is presented. 115 normal subjects and 44 patients affected by different types of mucopolysaccharidoses (MPSo-ses) have been studied by this method in comparison with the conventional borate-carbazole method. All patients showed an urinary GAG excretion well above the normal subjects. In particular, patients affected by Morquio syndrome showed values well beyond the normal range; on the contrary, with the borate-carbazole method, 6 out of 7 patients had borderline values of urinary GAGs. The new method is also more rapid and easier to perform than conventional methods.