Glycogenosis is a group of hereditary diseases associated with impaired carbohydrate metabolism, in particular with improper utilization and accumulation of glycogen in body tissues. One of these pathologies is glycogenosis type V, which is also called mackardlaglycogenosis. It is a rare genetic disorder that affects approximately 1 in 80,000 people
Glycogenosis I is a group of genetic diseases that occur with impaired glycogen metabolism and are expressed in progressive muscular dystrophy and disorders of the cardiovascular and respiratory systems, which leads to increased susceptibility to infections. Glycogenosis is a large group of heterogeneous hereditary diseases caused by impaired storage of carbohydrates, manifested in various organs and tissues of the patient’s nonspecific, slightly life-threatening intoxication and hypoglycemia, and the prognosis depends on the type of glycogenosis. Glycogenoses are divided into two types - I and II, in turn, into four classes. When suffering from glycogenosis, patients are at risk of sudden death from complications associated with respiratory disorders, circulatory disorders, cardiac arrhythmia and thrombosis; however, timely diagnosis and adequate therapy in children provide these patients with a good quality of life for many years.