Von Gierke Disease have first described by Doctor Edgar von Gierke in year 1929. This disease is the first described glycogen storage disease also. With it, this disease is the most common glycogen storage disorder. The cause of this disease is glucose-6-phosphatase enzyme deficiency. For this reason, glycogen cannot break down in whole body.
This disease is transferred by autosomal recessive inheritance. Because of autosomal recessive inheritance this disease is more common in consanguineous marriage. If the both parents are gene carriers, 1 of 4 children will diseased. The half from the children will carry the diseased gene like his parents and they will healty. The 1/4 part will not have the defective gene also.
Mutations in G6PC, G6PC2, and G6PC3 genes on chromosome 11 are the most common mutations that cause to this disease. SLC37A4 gene mutation on chromosome 17 is an other mutation that cause to this disease also.
For definitive diagnosis, decreased glucose-6-phosphatase activity in fresh liver tissue must seen. With it, in this liver specimen glycogen and fat infiltrasyon can seen also.
The goal for treatment is correcting hypoglycemia and maintaining normoglycemia. In infants nasogastric tube feeding may necessary. At the night on sleeping period, feeding must continue from nasogastric tube. Fructose and galactose intake should be restricted. Contact sports should avoided because of the bleeding tendency.
Because of bleeding, iron deficiency may develop in these patients. For this reason, using of iron containing drugs is helpful.
Allopurinol is beneficial for protecting from gout attacks and hyperuricemia. This drug is saver against kidney diseases and pyelonephritis.
Human granulocyte colony-stimulating factor (G-CSF) can use for treating recurrent infections.
In necessary cases such as hepatocellulary cancer liver transplantation can performed.
Improving care and treatment have reduced early mortality rate. With it, these patients can die because any secondary diseases like hepatocellular cancer, renal impairment or some infections. These patients can live up to 35-40 years of age, only with good support and treatment.
Successful pregnancies have reported in literatures.
This disease will usually not affect the mental state.