Muscle Glycogenoses and Other Inborn Errors of Carbohydrate Metabolism That Affect Muscle

cocukmetabolizma-5-1-2024

Çiğdem Seher KASAPKARAa

aAnkara Yıldırım Beyazıt University Ankara Bilkent City Hospital, Department of Pediatric Metabolism Diseases, Ankara, Türkiye

ABSTRACT
The main source of energy of mucle tissue during intense exercise is glycolysis, muscle uses energy from glycogenolysis during moderate exercise and it uses fatty acids at rest. Impairments in glucose metabolism, fatty acid oxidation defects, and disorders of mitochondrial metabolism can cause metabolic myopathies. The myopathies regarding carbohyrate metabolism are classified as disorders of glycolysis, glycogenolysis, and glycogen synthesis. Glycogen storage diseases describe a group of glycogen metabolism disorders mostly affecting the liver or skeletal/cardiac muscular system. Muscle glycogenoses has been expanded in recent years with the discovery of new metabolic diseases. We emphasize the clinical, laboratory, molecular genetic features of muscle glycogenosis and other inborn errors of carbohydrate metabolism that affect muscle which are denoted by roman numbers.
Keywords: Muscle glycogenoses; myopathy associated disorders of glycolysis; glycogen synthesis

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