Glycogenosis

Glycogenosis is a group of hereditary diseases associated with impaired glycogen metabolism. Glycogen is the main form of carbohydrates stored in the liver and muscles.

With glycogenosis, glycogen accumulates in cells due to a defect in the enzymes involved in its synthesis or breakdown. This leads to disruption of the energy supply to cells and the development of clinical symptoms.

There are several types of glycogenosis depending on which enzyme is affected. The most common glycogenoses are types I, II, III, IV, VI and IX.

Clinical manifestations include hypoglycemia, hepatomegaly, muscle weakness, cramps, and growth retardation. Treatment is mainly symptomatic and dietary, aimed at maintaining normal blood glucose levels. The prognosis depends on the form and severity of the disease.

Glycogenoses are a group of hereditary metabolic disorders caused by various genetic defects in one of the enzymes in the glucose utilization pathway - glycogen phosphorylase.

Normally, glucose enters the blood only as a result of its breakdown in the gastrointestinal tract. In cells, glucose is used only by those tissues that themselves are able to synthesize the energy substrate for their cells - glycogen, and then oxidize it further to carbon dioxide and water. The bulk of glycogen, about 90% of the total mass, is not found in fat, muscle tissue and liver, as many mistakenly believe