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Mucopolysaccharides in Urine during Normal Human Development

Extract: To determine the pattern of urinary mucopolysaccharides during normal human development, the urine samples from 92 normal individuals (aged from birth to 25 years) were analyzed for degradation ratio (large molecular weight mucopolysaccharides/fragments) and for the electrophoretic pattern of the different mucopolysaccharides present. The degradation ratio averaged 0.42 ± 0.21 (range 0.13–0.75) and was independent of age and sex. It was determined by electrophoresis that the major mucopolysaccharide was chondroitin sulfate. In the eight patients with a genetic mucopolysaccharidosis the degradation ratio was above 1.0 and electrophoresis revealed the presence of large quantities of dermatan sulfate and heparan sulfate. The two tests, therefore, permit distinction of urine from a normal individual from that of a patient with a genetic mucopolysaccharidosis.Speculation: On the basis of studies done on cultured fibroblasts, it is apparent that the term genetic mucopolysaccharidosis encompasses a much broader base of cellular pathology than that previously considered. Normal values for urinary mucopolysaccharides throughout development in conjunction with cell culture studies are needed by clinicians trying to determine whether a patient with some but not all the stigmata suggestive of a genetic mucopolysaccharidosis has a disorder of mucopolysaccharide metabolism.