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PMID: 813230 Published · ppublish English Historical Article Journal Article Research Support, U.S. Gov't, P.H.S.

The mucopolysaccharidoses (a review).

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 73 ·No. 2 ·1976-02-00 ·Pages 630-7

Dorfman A, Matalon R

Abstract

The mucopolysaccharidoses are a group of genetic diseases characterized by storage of incompletely degraded glycosaminoglycans. Such storage causes marked distortion of many tissues with consequent severe somatic changes and mental retardation. Storage of glycosaminoglycans results from markedly diminished activity of specific hydrolases requisite for the normal degradation of glycosaminoglycans. The specific enzymic defects have been identified in nine different diseases. In some cases evidence has been obtained indicating the existence of additional allelic diseases based on the same enzyme. The knowledge obtained from these studies has made prenatal diagnosis possible and has led to the possibility that therapy may be undertaken utilizing enzyme replacement.

MeSH Terms
Acetylglucosaminidase/deficiency Alleles Arylsulfatases/deficiency Chondroitin Sulfates/metabolism Dermatan Sulfate/metabolism Glucuronidase/deficiency Glycosaminoglycans/metabolism Heparitin Sulfate/metabolism History, 20th Century Humans Iduronidase/deficiency Mucopolysaccharidoses/enzymology,genetics,history Mucopolysaccharidosis I/enzymology Sulfatases/deficiency
Chemicals
Glycosaminoglycans Dermatan Sulfate Chondroitin Sulfates Heparitin Sulfate Sulfatases Arylsulfatases Glucuronidase Acetylglucosaminidase Iduronidase
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Dorfman A
Matalon R
References (68)
68 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.73.2.630
Published
1976-02-00
Pages
630-7
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC335965
Subset
IM
External Links
PubMed source DOI: 10.1073/pnas.73.2.630 PMC Full Text View journal details
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