Neuromuscular disorders of glycogen metabolism.

Elisabetta Gazzerro, Antoni L. Andreu, Claudio Bruno

Research output: Contribution to journalArticle

Abstract

Disorders of glycogen metabolism are inborn errors of energy homeostasis affecting primarily skeletal muscle, heart, liver, and, less frequently, the central nervous system. These rare diseases are quite variable in age of onset, symptoms, morbidity, and mortality. This review provides an update on disorders of glycogen metabolism affecting skeletal muscle exclusively or predominantly. From a pathogenetic perspective, we classify these diseases as primary, if the defective enzyme is directly involved in glycogen/glucose metabolism, or secondary, if the genetic mutation affects proteins which indirectly regulate glycogen or glucose processing. In addition to summarizing the most recent clinical reports in this field, we briefly describe animal models of human glycogen disorders. These experimental models are greatly improving the understanding of the pathogenetic mechanisms underlying the muscle degenerative process associated to these diseases and provide in vivo platforms to test new therapeutic strategies.

Original languageEnglish
Pages (from-to)333
Number of pages1
JournalCurrent Neurology and Neuroscience Reports
Volume13
Issue number3
DOIs
Publication statusPublished - Mar 2013

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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