Glycogenic disease

Glycogenic disease (synonym glycogens) is a disease characterized by excessive accumulation in the body of glycogen; due to congenital anomaly of enzymesinvolved in the synthesis and absorption of glycogen. Because these disorders can be caused by a deficiency of the enzyme or violations in several enzyme systems, described a number of clinical varieties of glycogenic disease. The most popular one - hepato-metromegallora form. This is a classic manifestation of glycogenic disease known as disease Guirec, is connected with deficiency of the enzyme glucose-6-phosphatase. The symptoms of the disease occur in the first year of life. Marked increase in the liver (Fig.), kidneys as a result of accumulation in glycogen, stunted growth, the trend towards overweight, permanent hypoglycemia due to the reduction of glycogenolysis, manifested increased appetite, sometimes convulsions. For biochemical analysis of blood, besides hypoglycemia, revealed elevated levels of cholesterol, fatty acids, ketone bodies, shift reaction, blood in the direction of acidosis. Due to damage to the renal tubules is impaired reabsorption of glucose, amino acids, and they are excreted with the urine.
Glycogenic disease
(Fig. right of a Child suffering from glycogenic disease (shows the boundaries of a costal arch and the lower edge of the liver).
A less common form of glycogenic disease is generalized glycogens Pump, manifested in the first 2-6 months. life. The disease is more difficult and is characterized by the accumulation of glycogen in the cells of the Central nervous system, reticuloendothelial system, glands, liver.
Clinical picture: General weakness, shortness of breath, cyanosis, neurological disorders, increase in the size of the heart. Forecast for life is poor. Death occurs very quickly from circulatory failure.
Other known types of glycogenic disease are much rarer and clinical symptoms are similar to the first two forms, characterized by some specific features. Diagnosis is confirmed by needle biopsy of the liver and lymph nodes, a biochemical analysis of blood.
Treatment: the continuous introduction of glucose (even at night) to prevent hypoglycemia, and the appointment of a diet rich in carbohydrates, proteins, but low in fat.