Current Rheumatology Reports

, Volume 12, Issue 5, pp 386–393

Metabolic Myopathies


DOI: 10.1007/s11926-010-0119-9

Cite this article as:
DiMauro, S., Garone, C. & Naini, A. Curr Rheumatol Rep (2010) 12: 386. doi:10.1007/s11926-010-0119-9


We consider recent developments in disorders affecting three areas of metabolism: glycogen, fatty acids, and the mitochondrial respiratory chain. Among the glycogenoses, new attention has been directed to defects of glycogen synthesis resulting in absence rather than excess of muscle glycogen (“aglycogenosis”). These include defects of glycogen synthetase and defects of glycogenin, the primer of glycogen synthesis. Considerable progress also has been made in our understanding of alterations of glycogen metabolism that result in polyglucosan storage. Among the disorders of lipid metabolism, mutations in the genes encoding two triglyceride lipases acting hand in hand cause severe generalized lipid storage myopathy, one associated with ichthyosis (Chanarin-Dorfman syndrome), the other dominated by juvenile-onset weakness. For the mitochondrial myopathies, we discuss the importance of homoplasmic mitochondrial DNA mutations and review the rapid progress made in our understanding of the coenzyme Q10 deficiencies, which are often treatable.


Glycogenoses Aglycogenosis Lipid storage myopathies Mitochondrial myopathies 

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  1. 1.Department of Neurology, College of Physicians and SurgeonsColumbia University Medical CenterNew YorkUSA

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