Glycogen storage disease type I

As Von Gierke 's disease, also glycogen storage disease type I ( GSD1 ) or glycogen storage disease type I, the most common disease from the group of glycogen is called. The disease was in 1929 by the pathologist Edgar von Gierke ( 1877-1945 ) first described. 1A is based on the shape of a defect in the enzyme glucose -6-phosphatase which plays a key role in the release of glucose from the liver, and thus in particular in the energy metabolism of the body. It comes to an accumulation of glucose -6-phosphate in hepatocytes and proximal tubular cells. The result is an excessive glycogen synthesis. One reason is the allosteric activation of the phosphoprotein phosphatase 1 by glucose-6- phosphate, which inhibits glycogen and promotes the synthesis. The disease is inherited as an autosomal recessive trait. At frequency (incidence) of a disease per 100,000 births, the disease .. The reason for the rarely forms 1B, 1C and 1D is a malfunction of the glucose -6-phosphate translocase, a transport protein, in particular the transport of G6P accomplished in the endoplasmic reticulum.

Clinic

The disease manifests itself in the infant with hypoglycemia and acidosis as a result of disturbed by the enzyme defect glucose release. The impaired glucose release also leads to an increased Glykogenablagerung in the liver, which is associated with liver enlargement ( hepatomegaly ). There is often a muscle weakness and growth retardation. Increased glycogen storage in the muscles (as with Pompe disease and McArdle's disease) is not found, however.

Diagnostics

The disease leads to low blood glucose levels, which are not necessarily symptomatic. A compensatory excessive activation of lipolysis leads to hyperlipidemia. Furthermore, there is a hyperuricemia. After administration of glucose an increase in blood glucose level and a decrease in lactate levels in the blood is observed. The diagnosis can be confirmed by molecular genetic analysis of the glucose-6- phosphatase gene G6PC. A liver biopsy is therefore no longer necessary.

Therapy

Treatment should be done in a pediatric metabolic center, where the children and their parents need to be informed about medical and nutritional principles as well as emergency response. An emergency certificate is issued. The goal of therapy is to safely avoid hypoglycaemia and stabilization of the metabolic situation. During the day you will reach the frequent, small, high-carbohydrate meals, at night a continuous duration probing with dextrin or starch is necessary. If you start in time with this therapy, a normal body growth achieved and chronic organ complications can be avoided.