Von - Gierke’s Disease : Cause, Symptoms

 Von - Gierke’s Disease 

This is one of the groups of rare genetic disorder due to the defect in one or more of the enzymes involved in glycogen metabolism leading to excessive accumulation of glycogen in the tissue especially in liver, muscle and heart. The first glycogen storage disease identified was Von-Gierke’s disease. The frequency of this disease is one in two lakhs.

 

1.  Cause

 

This was the first inherited deficiency identified to affect liver. In this, the enzyme which is deficient is glucose 6-phosphatase that converts glycogen to glucose 6-phosphate and then to glucose.


 

2.  Symptoms

 

Both liver cells and the cells of renal convoluted tubules are loaded with glycogen. Ketosis and hyperlipidemia are also present. Glycogen content in the liver can rise to 15 per cent. Glycogen accumulates in kidney also. Massive enlargement of the liver, pronounced hypoglycemia in between meals, failure of blood glucose to rise on administration of glycogen and convulsion are seen in this condition. Since glucose 6- phosphate cannot leave liver cells, there is compensatory increase in glycolysis leading to increased levels of pyruvic acid and lactic acid. The only treatment available is frequent feeding to avoid hypoglycemia in Von- Gierke’s Disease.

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