Metabolic Myopathies.
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.
Department of Neurology, Harbor-UCLA, Torrance, California.
Margaret
M
Adler
Department of Neurology, University of California, Los Angeles, California.
Perry B
PB
Shieh
D006801:Humans; D008659:Metabolic Diseases / Q000150:complications* / Q000235:genetics; D009135:Muscular Diseases / Q000150:complications* / Q000235:genetics