Nerve and Muscle (M Hirano and LH Weimer, Section Editors)

Current Neurology and Neuroscience Reports

, 13:333

First online:

Neuromuscular Disorders of Glycogen Metabolism

  • Elisabetta GazzerroAffiliated withCenter of Myology, Pediatric Neurology Unit, Department of Neuroscience and Rehabilitation, G. Gaslini Institute
  • , Antoni L. AndreuAffiliated withLaboratori de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d’Hebron, Institut de Recerca (VHIR), Universitat Autonoma de Barcelona
  • , Claudio BrunoAffiliated withCenter of Myology, Pediatric Neurology Unit, Department of Neuroscience and Rehabilitation, G. Gaslini Institute Email author 

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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.

Keywords

Glycogen metabolism Glycogen storage disease Glycogenoses Cardiomyopathy Vacuolar myopathy Exercise intolerance Weakness Glycogenin Glycogen synthase Branching enzyme Debrancher Myophosphorylase Phosphorylase b kinase Phosphofructokinase Phosphoglycerate kinase Phosphoglycerate mutase Danon disease Laforin Malin Polyglucosan Lafora bodies Autophagy Second wind phenomenon AMP-activated protein kinase