Pediatr Res. 1979 Dec;13(12):1316-8.

Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis.

Basner R, von Figura K, Glössl J, Klein U, Kresse H, Mlekusch W.

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.

PMID:: 523191; [PubMed - indexed for MEDLINE]

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Genetic complementation studies of multiple sulfatase deficiency. [Proc Natl Acad Sci U S A. 1979]
Genetic complementation studies of multiple sulfatase deficiency.
Horwitz AL. Proc Natl Acad Sci U S A. 1979 Dec; 76(12):6496-9.
Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays. [Clin Chim Acta. 1991]
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Cited by 3 PubMed Central articles

Complementation of multiple sulfatase deficiency in somatic cell hybrids. [Am J Hum Genet. 1984]
Complementation of multiple sulfatase deficiency in somatic cell hybrids.
Fedde K, Horwitz AL. Am J Hum Genet. 1984 May; 36(3):623-33.
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Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.
Kresse H, Paschke E, von Figura K, Gilberg W, Fuchs W. Proc Natl Acad Sci U S A. 1980 Nov; 77(11):6822-6.
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Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.
Chang PL, Davidson RG. Proc Natl Acad Sci U S A. 1980 Oct; 77(10):6166-70.

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Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis.

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