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Semin Neurol 2015; 35(04): 385-397
DOI: 10.1055/s-0035-1558973
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Metabolic Myopathies

Margaret Adler
1   Department of Neurology, Harbor-UCLA, Torrance, California
,
Perry B. Shieh
2   Department of Neurology, University of California, Los Angeles, California
› Author Affiliations
Further Information

Publication History

Publication Date:
06 October 2015 (online)

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Abstract

Metabolic myopathies encompass a group of rare disorders arising from defects in glycogen breakdown (glycogenolysis), glucose utilization (glycolysis), fatty acid transport and oxidation, and energy production along the mitochondrial respiratory chain. The authors review the ancillary testing used in the workup of metabolic myopathies and provide a detailed discussion of these individual disorders and how to approach patients suspected to have such diagnoses.

Keywords

metabolic myopathy - glycogen storage disease - lipid metabolism - fatty acid oxidation - mitochondrial myopathy
 

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