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Journal of Biomedicine and Biotechnology
Volume 2010 (2010), Article ID 340849, 19 pages
http://dx.doi.org/10.1155/2010/340849
Review Article

Inborn Errors of Energy Metabolism Associated with Myopathies

1Department of Paediatric Kidney-, Liver- and Metabolic Diseases, Hannover Medical School, Carl Neuberg Street 1, 30625 Hannover, Germany
2Screening Laboratory Hannover, Steinweg 13b, 30952 Ronnenberg, Germany

Received 29 October 2009; Revised 19 January 2010; Accepted 22 February 2010

Academic Editor: Henk L. M. Granzier

Copyright © 2010 Anibh M. Das et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Inherited neuromuscular disorders affect approximately one in 3,500 children. Structural muscular defects are most common; however functional impairment of skeletal and cardiac muscle in both children and adults may be caused by inborn errors of energy metabolism as well. Patients suffering from metabolic myopathies due to compromised energy metabolism may present with exercise intolerance, muscle pain, reversible or progressive muscle weakness, and myoglobinuria. In this review, the physiology of energy metabolism in muscle is described, followed by the presentation of distinct disorders affecting skeletal and cardiac muscle: glycogen storage diseases types III, V, VII, fatty acid oxidation defects, and respiratory chain defects (i.e., mitochondriopathies). The diagnostic work-up and therapeutic options in these disorders are discussed.