Conference Summary

  • Allen C. Crocker
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 68)

Abstract

The present (1975) Symposium on the Sphingolipidoses has a secure and audacious tone—a reasonable reflection of the state of the art in basic studies of the inborn errors of metabolism in lipids, mucopolysaccharides, and saccharides. The prototypic lipidoses (Tay-Sachs, Gaucher, Niemann-Pick diseases) no longer dominated the agenda. More recently-described syndromes, such as fucosidosis and mannosidosis, captured major attention, and there was a comfortable acknowledgement that common features of enzymology and tissue effects in the mucopolysaccharidoses and saccharidoses fully justified their joint consideration with the lipidoses. Of the 16 syndromes receiving primary consideration in the Symposium reports, all but three (adrenoleukodystrophy, neuronal ceroid lipofuscinosis, and polyunsaturated fatty acid lipidosis) had an identified enzymopathy of relevance. Heterozygote and prenatal homozygote diagnosis has now usually been achieved or is thought technically possible in the majority of these conditions. This more stable situation allowed Symposium authors to devote their energies to an advanced technology which, on occasion, leaves the historic worker in the field of the lipidoses somewhat breathless (to be an “historic worker” one must have been active in this area before the time of the first Symposium, in 1958!) It can assuredly be claimed that scientific study of the inborn error syndromes related to large or membrane-related molecules has come of age.

Keywords

Oligosaccharide Retinol Chloroquine Glycopeptide Glyco 

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Copyright information

© Plenum Press, New York 1976

Authors and Affiliations

  • Allen C. Crocker
    • 1
    • 2
  1. 1.Children’s Hospital Medical CenterBostonUSA
  2. 2.Harvard Medical SchoolBostonUSA

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