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Pattern of urinary acid mucopolysaccharide excretion in five patients with genetic mucopolysaccharidoses.

Qualitative and quantitative determinations of urinary acid mucopolysaccharides in five patients with Hurler, Morquio and Scheie syndromes have been studied by several methods including ECTEOLA-cellulose column chromatography, Dowex 1×2 column chromatography, electrophoresis and enzymatic digestion with testicular hyaluronidase and chondroitinase. 1) Considerable amounts of chondroitin sulfate B, heparitin sulfate and keratosulfate were detected in the urine of two patients with Hurler syndrome compared with that of normal male children. 2) Keratosulfate constituted respectively about one-third (34.5% and 29.4%) of the total acid mucopolysaccharide excreted in two sisters with Morquio syndrome. Each content of all of the acid mucopolysaccharide excreted was greater than that excreted in normal male children. 3) Chondroitin sulfate B and heparitin sulfate comprised 39.0% and 24.3% of the total acid mucopolysaccharide excreted in a patient with Scheie syndrome. 4) With the exception of chondroitin sulfates A and C in two brothers with Hurler syndrome, all of the acid mucopolysaccharides found in the urine of normal male children were also identified in the urine of five patients with genetic mucopolysaccharidoses.