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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis.

Fibroblasts of four patients affected with mucosulfatidosis (multiple sulfatase deficiency, Austin variant of metachromatic leukodystrophy) were assayed for activities of the five sulfatases known to degrade mucopolysaccharides. These were iduronide 2-sulfate sulfatase, sulfamidase, N-acetyl-galactosamine 6-sulfate sulfatase, arylsulfatase B (N-acetylgalactosamine 4-sulfate sulfatase), and N-acetylglucosamine 6-sulfate sulfatase. The activities of these five sulfatases were severely depressed, thus confirming the known deficiency of arylsulfatase B and the absence of the Hunter and Sanfilippo III A corrective factors that have iduronide 2-sulfate sulfatase and sulfamidase activity, respectively. Together with earlier reports of the deficiencies of arylsulfatases A and C, cholesteryl sulfatase, and dehydroepiandrosterone sulfatae, mucosulfatidosis is now characterized by the deficiency of nine different sulfatases.[1]


  1. Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis. Basner, R., von Figura, K., Glössl, J., Klein, U., Kresse, H., Mlekusch, W. Pediatr. Res. (1979) [Pubmed]
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