Error Inborn Metabolism Regulation State
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and Scope · Annual Issues · Article Processing Charges · Articles in Press · Author Guidelines · Bibliographic Information · Citations to this Journal · Contact Information · Editorial https://www.hindawi.com/journals/bmri/2010/340849/ Board · Editorial Workflow · Free eTOC Alerts · Publication Ethics · Reviewers Acknowledgment · Submit a Manuscript · Subscription Information · Table of Contents Open Special Issues · Published Special Issues · Special Issue Guidelines Abstract Full-Text PDF Full-Text HTML Full-Text XML Linked References Citations to this Article How to Cite this Article Complete Special Issue Journal of Biomedicine and BiotechnologyVolume 2010 (2010), inborn error Article ID 340849, 19 pageshttp://dx.doi.org/10.1155/2010/340849Review ArticleInborn Errors of Energy Metabolism Associated with MyopathiesAnibh M. Das,1 Ulrike Steuerwald,2 and Sabine Illsinger11Department of Paediatric Kidney-, Liver- and Metabolic Diseases, Hannover Medical School, Carl Neuberg Street 1, 30625 Hannover, Germany2Screening Laboratory Hannover, Steinweg 13b, 30952 Ronnenberg, GermanyReceived 29 October 2009; Revised 19 January 2010; Accepted 22 February 2010Academic Editor: Henk L. M. Granzier Copyright © 2010 Anibh M. inborn error of 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.AbstractInherited 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.1. IntroductionBoth skeletal and heart muscle are highly dependent on energy supply. As energy demand of these muscle tissues varies by several orders of magnitude, energy metabolism has to be tightly regulated in order to meet varyi