Introduction and Classification of Inherited Metabolic Myopathies

Ekin ÖZSAYDI AKTAŞOĞLUa , Leyla TÜMERb

aUniversity of Health Sciences Ankara Dr. Sami Ulus Child Health and Diseases Training and Research Hospital, Department of Pediatric Metabolism Diseases, Ankara, Türkiye
bGazi University Faculty of Medicine, Department of Pediatric Metabolism Diseases, Ankara, Türkiye

ABSTRACT
Metabolic myopathies are rare, inherited disorders with variable clinical presentations which include glycogen metabolism disorders, lipid metabolism disorders and mitochondrial myopathies. Muscle symptoms such as exercise intolerance, weakness, myalgia and rhabdomyolysis is detected in patients and multisystem involvement can be seen in some of the disorders. Routine laboratory tests, creatine kinase analysis and specific metabolic tests should be performed in suspected patients and the diagnosis should be confirmed by molecular genetic analysis. It should be taken into consideration that the laboratory results measured between attacks or during routine analysis may be completely normal.
Keywords: Muscular diseases; glycogen storage disease; carnitine palmitoyl transferase 2 deficiency; mitochondrial myopathies; rhabdomyolysis

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