Girke's disease

Girke 's disease - glycogenosis (glycogen disease, type I hepato-nephromegal glycogenosis) caused by glucose-6-phosphatase deficiency . The disease was described in 1929 by the German pathologist Edgar von Girke (1877-1945). The prevalence of pathology reaches 1: 200000, is equally common in children of both sexes.

The deficiency of this enzyme makes it impossible to convert glucose-6-phosphate to glucose , which is accompanied by the accumulation of glycogen in the liver and kidneys . Girke's disease is characterized by a genetically almost complete inability of cells to produce glucose-6-phosphatase, a key enzyme of both glycogenolysis and gluconeogenesis . The disease is inherited in an autosomal recessive manner. The intake of glucose in the body with food, which is a normal compensating process, in principle makes it possible to maintain a normal level of glucose in the blood, however, for this, the intake of food containing glucose should be practically continuous. In real conditions of existence, that is, in the absence of a continuous supply of glucose, the glycogen generated during its polymerization is deposited and, if necessary, in a healthy body.

With Girke's disease, the ability to convert glucose to glycogen and deposit the latter in the tissues of various organs, mainly the liver, remains. However, the ability to reverse the process is lost with a decrease in the concentration of glucose in the blood - to the reverse transition of glycogen to glucose. Thus, physiologically, the transformation of glucose into glycogen is an unnatural process, which ultimately not only does not benefit the body, but also causes additional serious pathological phenomena. Let us now consider a causal model of Girke's disease.

The primary disorder occurs at the genetic level. It consists in the complete or almost complete inability of cells to produce glucose-6-phosphatase, which provides the cleavage of free glucose from glucose-6-phosphate. As a result, glycogenolysis is interrupted at the level of glucose-6-phosphate and does not go any further. Dephosphorylation with the participation of glucose-6-phosphatase is a key reaction not only of glycogenolysis, but also gluconeogenesis, which, thus, in case of Girke's disease is also interrupted at the level of glucose-6-phosphate. The occurrence of persistent hypoglycemia , which is inevitable under real conditions due to the non-entry of glucose into the blood as the final product of glycogenolysis and gluconeogenesis, leads to a constant increased secretion of glucagon as a stimulator of glycogenolysis. Glucagon, however, under conditions of interruption of this process, is capable of continuously stimulating its initial stages only without any benefit to the body.

The treatment of the disease is aimed at maintaining a stable level of glucose in the blood corresponding to the current needs of the body.