The mucopolysaccharidoses (A review)

A. Dorfman, Reuben Matalon

Research output: Contribution to journalArticle

94 Citations (Scopus)

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 9 different diseases. In some cases evidence has been obtained indicating the existence of additional allelic diseases based in 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. (88 references).

Original languageEnglish (US)
Pages (from-to)630-637
Number of pages8
JournalProceedings of the National Academy of Sciences of the United States of America
Volume73
Issue number2
StatePublished - 1976
Externally publishedYes

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Mucopolysaccharidoses
Glycosaminoglycans
Inborn Genetic Diseases
Hydrolases
Enzymes
Prenatal Diagnosis
Intellectual Disability
Therapeutics

ASJC Scopus subject areas

  • General
  • Genetics

Cite this

The mucopolysaccharidoses (A review). / Dorfman, A.; Matalon, Reuben.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 73, No. 2, 1976, p. 630-637.

Research output: Contribution to journalArticle

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