CLASSIFICATION OF MUCOPOLYSACCHARIDOSES BASED ON PATTERN OF MUCOPOLYSACCHARIDURIA

Of several hundred urine samples submitted to this laboratory for saccharide analysis, forty-six were found to contain excessive amounts of heparan sulfate, dermatan sulfate or both. Four discrete patterns of mucopolysacchariduria were noted. Urines contained excessive amounts of either (1) heparan sulfate, (2) dermatan sulfate, (3) both heparan sulfate and dermatan sulfate in equal amounts and (4) both mucopolysaccharides with two or three times as much dermatan sulfate as heparan sulfate. Definite clinical correlations with the pattern of mucopolysacchariduria could be made. There was no mental retardation in the absence of heparan sulfate in the urine and an increasing probability of mental retardation with increasing amounts of heparan sulfate in the urine. Similarly, there was no corneal or aortic disease in the absence of dermatanfate in the urine, with an increasing probability of these two findings with increasing proportions of dermatan sulfate in the urine. After isolation of the urinary mucopolysaccharide, it was found that measurement of the ratio of glucosamine to galactosamine in this material was sufficient to classify the pattern of mucopolysacchariduria. It is thus suggested that patients with variants of the Hurler syndrome may be classified by examining hexosamine of the urinary mucopolysaccharide. These criteria may be superior to the eponymic designations of ill defined and overlapping clinical syndromes. © 1969.