Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments

Mol Genet Metab. 2020 Jan;129(1):3-12. doi: 10.1016/j.ymgme.2019.11.005. Epub 2019 Nov 21.


The glycogen storage diseases are a group of inherited metabolic disorders that are characterized by specific enzymatic defects involving the synthesis or degradation of glycogen. Each disorder presents with a set of symptoms that are due to the underlying enzyme deficiency and the particular tissues that are affected. Autophagy is a process by which cells degrade and recycle unneeded or damaged intracellular components such as lipids, glycogen, and damaged mitochondria. Recent studies showed that several of the glycogen storage disorders have abnormal autophagy which can disturb normal cellular metabolism and/or mitochondrial function. Here, we provide a clinical overview of the glycogen storage disorders, a brief description of autophagy, and the known links between specific glycogen storage disorders and autophagy.

Keywords: Autophagy; Cori disease; Glycogen Storage Disease (GSD); Glycogenosis; Lafora disease; Metabolism; Pompe disease; Signaling; von Gierke disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Autophagy*
  • Glycogen / metabolism*
  • Glycogen Storage Disease / drug therapy*
  • Glycogen Storage Disease / etiology*
  • Glycogen Storage Disease / pathology
  • Glycogen Storage Disease Type I / drug therapy
  • Glycogen Storage Disease Type I / etiology
  • Glycogen Storage Disease Type II / drug therapy
  • Glycogen Storage Disease Type II / etiology
  • Glycogenolysis
  • Humans
  • Muscle, Skeletal / physiopathology


  • Glycogen