Morquio’s disease

A definite difference in the urinary excretion of acid mucopolysaccharides was also observed (S2) in Morquio s disease. Although the nature of the mucopolysaccharide excreted in Morquio s disease awaits definite characterization, it does not appear to be keratan sulfate. 

Glossl, J, Lembeck, K., Gamse, G., and Kresse, H., Morquio s disease Type A Absence of material cross reacting with antibodies against N-acetylgalactoeamine 6-sulfate sulfatase. Hum. Genet. 54, 87-91 (1980). 

Horwitz, A. L., and Dorfinan, A., The enzymatic defect in Morquio s disease The specificity of N-acetylhexosamine sulfatases. Biochem. Biophys. Res. Commun. 80, 819-825 (1978). 

Yuen, M., and Fensom, A. H., Diagnosis of classical Morquio s disease JV-Acetylgalactosamine... 

Endothelial cells containing large foamy vacuoles were described in a case of Morquio s disease (WissE et al. 1974). Neoplastic lesions of endothelial cells, angiosarcomas, have been noted in human liver and in experimental animals. Several toxic environmental agents, such as vinyl chloride, arsenic, and thorotrast, have been impUcated in the pathogenesis of these lesions (Popper et al. 1978). 

Hereditary Mongolism Morquio s disease Hurler s disease ... 

The enzymic defect of Morquio s disease is attributed to the absence of 2-acetamido-2-deoxy-D-galactose 6-sulphate sulphatase. Extracts of fibroblasts from patients with the disease exhibit normal levels of 2-acetamido-2-deoxy-D-glucose 6-sulphate sulphatose and thus remove sulphate from 2-acetamido-2-deoxy-D-glucose 6-sulphate residues at the non-reducing ends of keratan sulphate. 

Marie, J. L., L. Marchand, J. Borel, J. Laroche et I. F. Foucin Considerations anatomo-cliniques sur la polydystrophie de Hurler. A propos un case. Encephale 44, 201 (1955). Maroteaux, P., and M. Lamy Hurler s disease, Morquio s disease, and related mucopolysaccharidoses. J. Pediat. 67, 312 (1965). 

The screening of heterozygotes for Hurler s syndrome is now possible, since the specific activity of the leucocyte-derived a-L-iduronidase in carriers is reduced by roughly 50%. The molecular size of dermatan sulphate excreted in the urine of patients with Hurler s syndrome can be monitored by gel-filtration chromatography on Sephadex G-75. The in vitro correction of the defect in Hurler s fibroblasts with bovine testicular hyaluronidase has produced encouraging results, and such treatment is also effective with Hunter s cells. A sulphated tetrasaccharide, which was obtained on digestion of chondroitin 6-sulphate with testicular hyaluronidase, has been used as the substrate in the determination of 2-acetamido-2-deoxy-D-galactose 6-sulphate sulphatase, an enzyme that is absent in patients with Morquio s disease. ... 

Suzuki Y, Oshima A, Nanba E (2001) /S-Galactosidase deficiency (/ -galactosidosis) GMl gangliosidosis and Morquio disease. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, vol III, 8th edn. McGraw-Hill, New York, pp 3775-3809... 

The metabolic disorder in Morquio-Ullrich s disease differs from that in Hurler s syndrome since substantial quantities of keratan sulfate have been identified (P2) in the urine of patients with this disease. The identification of the mucopolysaccharide was based on chemical, chromatographic, and infrared spectral data. In view of this rigorous characterization, it seems likely that the glucosamine-containing mucopolysaccharide reported by other workers (M6) in the urine of cases of this disease is also keratan sulfate. 

Stepwise degradation of keratan sulfate. The deficiency diseases corresponding to the numbered reactions are 1 = MPS IV A, Morquio syndrome type A 2 = MPS IVB, Morquio syndrome type B 3 = MPS III D, Sanfilippo s syndrome type D 4 = Sandhoff s disease and 5 = Tay-Sachs and Sandhoff s disease. The alternate pathway releases intact N-acetylglucosamine-6-sulfate, a departure from the usual stepwise cleavage of sulfate and sugar residues. [Reproduced with permission from E.F. Neufeld and J. Muenzer In Metabolic Basis of Inherited Disease, 7th ed., C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle (Eds). McGraw-Hill, New York, 1995, p. 2468.]... 

B30. Bitter, T., Muir, H., Mittwoch, U., and Scott, J. D., A contribution to the differential diagnosis of Hurler s disease and forms of Morquio s syndrome. J. Bone Joint Surg., Brit. Vol. 48, 637-645 (1966). 

J12. Jenkins, P., Davies, G. R., and Harper, P. S., Morquio-Brailsford disease, A report of four affected sisters with absence of excessive keratan sulphate in the urine. Brit. J. Radiol. 46, 668-675 (1973). 

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