Glycogen Storage Diseases

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Glycogen storage diseases (GSDs) comprise a group of rare inherited disorders caused by dysfunction of the synthesis or degradation of glycogen. Manifestations of GSDs are largely related to their direct effects on liver and/or muscle metabolism. The medical consequences of GSDs directly relate to glycogen's central role in glucose homeostasis. Analyzing this group of disorders has identified most of the enzymes directly related to glycogen metabolism. Recognizing the presence and consequences of GSD is the basis for rational treatment of affected individuals.

Original languageEnglish (US)
Title of host publicationEncyclopedia of Biological Chemistry
Subtitle of host publicationSecond Edition
PublisherElsevier Inc.
Pages428-433
Number of pages6
ISBN (Electronic)9780123786319
ISBN (Print)9780123786302
DOIs
StatePublished - Feb 15 2013

Keywords

  • CAMP
  • Glucagon
  • Glucose
  • Glycogen
  • Glycogen synthase kinase
  • Homeostasis
  • Insulin
  • Kinase
  • Liver
  • Muscle
  • Phosphatase
  • Phosphorylase

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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  • Cite this

    Sack, G. H. (2013). Glycogen Storage Diseases. In Encyclopedia of Biological Chemistry: Second Edition (pp. 428-433). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-378630-2.00043-8