Inborn Errors of Fatty Acid Metabolism That Affect Muscle

Ayça Burcu KAHRAMANa , Yılmaz YILDIZb

aKonya City Hospital, Clinic of Pediatric Metabolism Diseases, Konya, Türkiye
bHacettepe University Faculty of Medicine, Department of Pediatric Metabolism Diseases Ankara, Türkiye

ABSTRACT
This review includes a summary of diagnostic methodologies and therapeutic strategies of fatty acid oxidation disorders affecting skeletal muscle. Fatty acid oxidation defects lead to a spectrum of clinical symptoms, including fatigue, myalgia, exercise intolerance, muscle weakness, and exerciseinduced rhabdomyolysis. Early diagnosis is crucial to prevent misinterpretation as benign conditions like growing pains. The pathophysiology mainly affects muscle energy metabolism, impairing either fatty acid transport to mitochondria (carnitine cycle) or beta-oxidation within the mitochondrial matrix. Each condition presents similar but unique clinical and biochemical profiles. Acylcarnitine profile is critical in biochemical diagnosis. Early diagnosis not only benefits patients but also mitigates healthcare costs by reducing unnecessary medical consultations and enabling timely interventions. Treatment approaches generally revolve around dietary modifications, trigger avoidance, and supplementation. A multidisciplinary approach is necessary for accurate diagnosis and management.
Keywords: Metabolic myopathy; lipid storage myopathy; fatty acid oxidation disorder; carnitine cycle; muscle energy metabolism; rhabdomyolysis

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