Abstract
A 3½-year old child with severe skeletal dysplasia similar to Morquio syndrome, but with mental retardation had increased urinary mucopolysaccharides with unusual composition of 20% heparan sulfate and 75% keratan sulfate. Extracts of cultured skin fibroblasts from the patient contained normal levels of aryl sulfatases A, B and C, β-N-acetylhexosaminidase and β-galactosidase. Fibroblast extracts were incubated with (35S) N-acetylgalactosamine 6-sulfate as substrate and were found to have normal activity of the enzyme hydrolyzing this substrate. This finding is in contrast to Morquio syndrome where a deficiency of this enzyme is characteristic. A disaccharide containing (35S) N-acetylglucosamine 6-sulfate was prepared from chick embryo keratan sulfate. A profound deficiency in the hydrolysis of 35SO4 (1%) from this substrate was observed, while extracts of Morquio and normal fibroblasts readily hydrolyze (25%) 35SO4 from this substrate. On the basis of these data a new mucopoly-saccharidosis, distinct from Morquio syndrome, with a different sulfatase deficiency (N-acetylglucosamine 6-sulfatase) is described. The deficiency in Morquio syndrome is that of N-acetylgalactosamine and galactose 6-sulfatase. DiFerrante et al. (Science, in press) have reported similar findings in another patient. Supported by Nat'l Foundation Grant 244-39-66-321.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Matalon, R., Horowitz, A., Wappner, R. et al. 540 A KERATAN AND HEPARAN SULFATURIA - A NEW MUCOPOLYSAC- CHARIDOSIS WITH N-ACETYLGLUCOSAMINE 6− SULFATASE DEFICIENCY. Pediatr Res 12 (Suppl 4), 453 (1978). https://doi.org/10.1203/00006450-197804001-00545
Issue Date:
DOI: https://doi.org/10.1203/00006450-197804001-00545
This article is cited by
-
Keratan and heparan sulphaturia: a mucopolysaccharidosis with an enzyme defect not previously identified
Journal of Inherited Metabolic Disease (1982)