Myophosphorylase deficiency

Myophospharylase is an enzyme involved in several metabolic processes such as glycolytic, anaerobic energy metabolism and transcription regulation. Mutations in the phosphorylase gene lead to defects at all levels of the process, from the start of the process to its completion. These defects may be the cause of the clinical picture, arising from the presence of energy deficiency factors or destabilization of the energy transport system in the mitochondrial structure of the cell. Such patients complain of chronic weakness and fatigue, and their muscle tissue becomes flaccid and of low density. In severe cases, neurological symptoms such as headaches, dizziness or seizures are also observed. Diagnosis of phosphorylase activity deficiency can be carried out using biochemical and molecular genetic methods. Treatment is aimed at modifying the diet to reduce the body's restrictions on glucose and its analogue, glycogen. Many studies also demonstrate the high effectiveness of exercise in