| Abstract [eng] |
Background. Metabolic myopathies are a diverse group of genetic disorders, arising from defects in glycogen breakdown, fatty acid oxidation, and energy production along the mitochondrial respiratory chain, all resulting in an impaired energy production. Clinically, patients present with varied ages of onset and neuromuscular features. Aim: To conduct a literature review on metabolic myopathies, focusing on glycogen storage disorders, fatty acid oxidation disorders and mitochondrial disorders, including the clinical symptoms, diagnostics and treatment options. Methods. A literature review was conducted on the PubMed database using the keywords: “metabolic myopathies”, “glycogen storage disorder”, “fatty acid oxidation disorder”, „mitochondrial myopathy“. Articles published in the last 15 years in English were selected for the analysis. Results. Glycogen storage diseases present with high-intensity exercise, whereas fatty acid oxidation defects and mitochondrial myopathies usually present during endurance-type activities or fasting, causing symptoms such as muscle pain and rhabdomyolisis. An accurate diagnosis is important to determine appropriate therapies including lifestyle modification, nutritional intervention, cofactor treatment, and proper exercise prescription, and for providing accurate genetic counseling. Conclusions. The most common of metabolic myopathies are complex and rare diseases. A patient‘s medical history is a critical part of the workup in a patient presenting with rhabdomyolysis, with a lifelong history of exercise intolerance and recurrent rhabdomyolysis being the two most common predictors of an underlying genetic metabolic myopathy/inborn error of metabolism. |
