Metabolic Myopathies

Metabolic myopathies are inborn errors of metabolism that impair the metabolism of substrates and result in exercise intolerance. Fatty acid oxidation defects (FAODs), glycogen storage disease (GSD), and mitochondrial myopathies represent the three main groups of disorders, and some consider myoadenylate deaminase deficiency (AMPD1) to be a metabolic myopathy. In general, the GSDs result in high-intensity exercise intolerance, whereas the FAODs …