glycogen storage disease type VII(English)

• an autosomal recessive disease in which the key regulatory enzyme of the glycolytic pathway is deficient. Because of phosphofructokinase deficiency, the muscle is unable to use glucose as an energy source, so glucose intake in these patients leads to an “out-of-wind” phenomenon. Muscle biopsy demonstrates accumulation of normal glycogen. The clinical features are similar to those of McArdle disease: muscle aches and cramps induced by exercise, as well as episodes of rhabdomyolysis. The characteristic features include earlier onset, with the first symptoms occurring in childhood and more severe attacks frequently being associated with systemic symptoms such as nausea and vomiting. A compensated hemolytic anemia is characteristic and occurs secondary to decreased erythrocyte 2,3-biphosphoglycerate, which leads to a shortened erythrocyte life span; aka Tarui disease or phosphofructokinase deficiency
• Congenital disorders, Metabolism, Musculoskeletal system, Pediatrics, Erythrocyte
• https://doi.org…09138-1.00151-0