Mucopolysaccharides in Urine during Normal Human Development

Abstract

ExtractTo 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. SpeculationOn 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 oi a genetic mucopolysaccharidosis has a disorder of mucopolysaccharide metabolism.

Genetic heterogeneity within the chondroitinsulphaturias.

“…The mucopolysaccharides in the urine and cultured fibroblasts were quantitatively and qualitatively assayed by methods previously described (Danes et al, 1972;Douglas et al, 1973). Activities of lysosor Shannon Danes, Rottell, Eviatar, and Stolzenberg mal enzymes studied were assayed as described for fibroblastic homogenates (Neufeld, 1974).…”

Hurler/Scheie Phenotype

“…Both the excretion of the high molecular weight GAGS per 24 h and the excretion when cor related with the creatinine content of the urine were abnormally high. The degrada tion ratio, defined as the amount of uronic acid in the material precipitated by means of CPC over the amount of uronic acid in the material not precipitated [5], reflects the degradation of the GAGS. Values of less than I are found in persons without mucopolysaccharidosis [4, 5j.…”

Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity.

“…tMethodology used in isolation/characterization of urinary mucopolysaccharides-Douglas et al (1973) andDi Ferrante et al (1972). Values from individual patients with each syndrome.…”