Isolation and Identification of Keratosulphate in Urine of Patients Affected by Morquio-Ullrich Disease.

Different Properties of Residual N-Acetylgalactosamine-6-Sulfate Sulfatase in Fibroblasts From Patients With Mild and Severe Forms of Morquio Disease Type A

“…The biochemical hallmark of the Morquio syndrome is an inadequate degradation of keratan sulfate. In most cases the patients excrete elevated amounts of keratan sulfate with their urine (18) and store that polysaccharide in cartilage (19) and liver (14).…”

Mucopolysaccharidoses

“…This abnormal excretion pattern was confirmed by Meyer et al in 1958. Pedrini, Lennzi, andZambotti (1962) showed excessive keratan sulphate excretion in type IV (Morquio's disease), which was confirmed by Robins, Stevens, and Linker (1963), and shown to be a keratan sulphate-chondroitin sulphate-protein complex by Kaplan et al (1968). Lorincz (1958) (Maroteaux, 1970;Pennock, 1973;Constantopoulos and Dekaban, 1975), and the excretion pattern may change with age and even be normal in type IV (Maroteaux and Lamy 1967;Linker, Evans, and Langer, 1970;Jenkins, Davies, and Harper, 1973 (Danes and Bearn, 1966a;Schafer et al, 1966).…”

The Diagnostic Value of Isolated Urinary Mucopolysaccharides and of Lymphocyte Inclusions in Gargoylism

“…A somewhat raised excretion has been noted in some cases of Morquio-Brailsford-Ullrich syndrome (Zellweger et al, 1961;Maroteaux and Lamy, 1961;Dyggve, Melchior and Clausen, 1962;Sanfilippo and Good, 1962). Three cases have been reported to excrete a considerable proportion of keratosulphate (Pedrini, Lennzi and Zambotti, 1962). Although keratosulphate is resistant to hyaluronidase it contains galactose in place of uronic acid and would have given low uronic acid/hexosamine ratios, if it had been present in the isolated sulphated mucopolysaccharides of Cases 1-7.…”