Akademik Veri Yönetim Sistemi
Türkiye Klinikleri Yayınevi, Ankara, 2024
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.