Genetic Evaluation of Metabolic Myopathies

Ekin ÖZSAYDI AKTAŞOĞLUa , Filiz Başak CENGİZ ERGİNb , Aslı İNCİb

aUniversity of Health Sciences Ankara Dr. Sami Child Health and Disease 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 characterized by a deficiency of enzymes or proteins that are required for muscle energy metabolism, and most of them are inherited autosomal recessively. Glycogen metabolism disorders, fatty acid oxidation defects, and mitochondrial disorders are included in metabolic myopathies. Patients can present with exercise intolerance, fatigue, muscle weakness, rhabdomyolysis, myoglobinuria/pigmenturia, and in addition to muscle involvement, symptoms and signs related to liver, heart, and neurological involvement can also be seen. With the increasing use of next-generation sequencing (NGS) in clinical practice, in suspected patients, genetic evaluation is preferred in addition to other diagnostic approaches.
Keywords: Metabolic myopathies; genetic evaluation; sanger sequencing; next-generation DNA sequencing

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