title: Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis.
abstract: 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.
mesh_terms: D000117:Acetylglucosamine / Q000031:analogs & derivatives; D002803:Chondro-4-Sulfatase / Q000172:deficiency; D002811:Chondroitinsulfatases / Q000172:deficiency; D005347:Fibroblasts / Q000201:enzymology; D005838:Genotype; D006493:Heparin; D006801:Humans; D006867:Hydrolases / Q000172:deficiency; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology* / Q000235:genetics; D008247:Lysosomes; D016532:Mucopolysaccharidosis II; D012867:Skin / Q000201:enzymology; D013429:Sulfatases / Q000172:deficiency*
chemical_list: D006493:Heparin; D006867:Hydrolases; D002811:Chondroitinsulfatases; D013429:Sulfatases; D002803:Chondro-4-Sulfatase; C022708:N-sulfoglucosamine sulfohydrolase; D000117:Acetylglucosamine