What Is a Metabolic Myopathy?
Metabolic myopathy is a group of diseases caused by abnormal energy supply in muscle cells. It is mainly caused by skeletal muscle glycogen and fat metabolism abnormalities, which are mainly related to glycogen, lipid or mitochondrial metabolism abnormalities and nuclear gene abnormalities. The final diagnosis of the disease requires pathological examination, specific typing requires biochemical and genetic testing, and different types of metabolic myopathy have different characteristics. It mainly includes three major types of diseases: mitochondrial disease, lipid metabolic myopathy, and glycogen metabolic myopathy.