Differentiation of mucopolysaccharidoses by analyses of the excreted sulfated mucopolysaccharides.
Analyses of sulfated mucopolysaccharides excreted by patients with Hunter, Hurler, Scheie, Sanfilippo A and Sanfilippo B syndromes are reported. Three distinct methods, namely agarose gel electrophoresis, enzymatic degradation and molecular weight determination, were used in an attempt to differentiate the mucopolysaccharidoses by analysis of the urinary mucopolysaccharides. It is shown that by the combination of these methods it is possible to differentiate most of the syndromes and also to demonstrated that some patients with the same syndrome excrete different types of sulfated mucopolysaccharides.
D003937:Diagnosis, Differential; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine*; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000652:urine; D016532:Mucopolysaccharidosis II / Q000175:diagnosis / Q000652:urine; D009084:Mucopolysaccharidosis III / Q000175:diagnosis / Q000652:urine
D006025:Glycosaminoglycans