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PMID: 6450420 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 77 ·No. 11 ·1980-11-00 ·Pages 6822-6

Kresse H, Paschke E, von Figura K, Gilberg W, Fuchs W

Abstract

Skin fibroblasts from two patients who had symptoms of the Sanfilippo syndrome (mucopolysaccharidosis III) accumulated excessive amounts of heparan sulfate and were unable to release sulfate from N-acetylglucosamine-6-sulfate linkages in heparan sulfate-derived oligosaccharides. Keratan sulfate-derived oligosaccharides bearing the same residue at the nonreducing end and p-nitrophenyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyranoside were degraded normally. Kinetic differences between th sulfatase activities of normal fibroblasts were found. These observations suggest that N-acetylglucosamine-6-sulfate sulfatase activities degrading heparan sulfate and keratan sulfate, respectively, can be distinguished. It is the activity directed toward heparan sulfate that is deficient in these patients; we propose that this deficiency causes Sanfilippo disease type D.

MeSH Terms
Glycosaminoglycans/metabolism Heparitin Sulfate/metabolism Humans Hydrogen-Ion Concentration Kinetics Lysosomes/enzymology Mucopolysaccharidoses/enzymology Mucopolysaccharidosis III/enzymology Sulfatases/deficiency,metabolism
Chemicals
Glycosaminoglycans Heparitin Sulfate Sulfatases N-acetylglucosamine-6-sulfatase
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Kresse H
Paschke E
von Figura K
Gilberg W
Fuchs W
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30 references, click to expand
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.77.11.6822
Published
1980-11-00
Pages
6822-6
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC350382
Subset
IM
External Links
PubMed source DOI: 10.1073/pnas.77.11.6822 PMC Full Text View journal details
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