Current Rheumatology Reports

, Volume 12, Issue 5, pp 386–393

Metabolic Myopathies

Authors

    • Department of Neurology, College of Physicians and SurgeonsColumbia University Medical Center
  • Caterina Garone
    • Department of Neurology, College of Physicians and SurgeonsColumbia University Medical Center
  • Ali Naini
    • Department of Neurology, College of Physicians and SurgeonsColumbia University Medical Center
Article

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

Abstract

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.

Keywords

GlycogenosesAglycogenosisLipid storage myopathiesMitochondrial myopathies

Copyright information

© Springer Science+Business Media, LLC 2010