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Metabolic Myopathies

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Inherited Metabolic Diseases

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Abstract

The metabolic disorders which affect muscle can cause chronic weakness and hypotonia or episodic exercise intolerance cumulating in rhabdomyolysis or both. Rhabdomyolysis disorders can be conveniently separated according to tolerance of short, intense exercise compared to longer, milder efforts. Most metabolic disorders which affect skeletal muscle do so by altering energy metabolism. Muscle at rest uses fatty acids as the main energy source. During intense exercise, there will be anaerobic glycolysis and utilization of muscle glycogen. During sustained exercise, fatty acids become again the source of fuel. Exercise, fasting, cold, infections, and medications may elicit symptoms. Important causes of metabolic myopathy include adenosine monophosphate (myoadenylate) deaminase deficiency, and disorders of glycolysis, glycogenolysis, fatty acid oxidation, and oxidative phosphorylation. In many cases, other organs are involved. Diagnosis requires careful attention to dietary and exercise history and appropriate laboratory investigations. Exercise testing, electromyogram, molecular testing, and muscle biopsy can provide essential information. Treatment depends on avoiding precipitating factors and optimizing muscle energetics.

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Authors and Affiliations

  1. Division of Genetics and Metabolism, Arkansas Children’s Hospital, 1 Children’s Way, Slot 512-22, Little Rock, AR, 72202, USA

    Stephen G. Kahler

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  1. Stephen G. Kahler
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Correspondence to Stephen G. Kahler .

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Editors and Affiliations

  1. Department of Pediatrics, University of Heidelberg, Heidelberg, Germany

    Georg F. Hoffmann

  2. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  3. Department of Pediatrics, University of California San Diego , La Jolla, California, USA

    William L. Nyhan

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Kahler, S.G. (2017). Metabolic Myopathies. In: Hoffmann, G., Zschocke, J., Nyhan, W. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49410-3_28

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  • DOI: https://doi.org/10.1007/978-3-662-49410-3_28

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-49408-0

  • Online ISBN: 978-3-662-49410-3

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