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  Von-Gierke’s Disease

Von-Gierke’s Disease:

Von-Gierke’s Disease is one of the groups of rare genetic disorder because of the defect in one or more of the enzymes included in glycogen metabolism leading to excessive growth of glycogen in the tissue particularly in liver, muscle and heart.

The first glycogen storage disease recognized was Von-Gierke’s disease. The occurrence of this disease is one in two lakhs.

Cause:

This was very firstly inherited deficiency recognized to influence liver. In this, the enzyme that is deficient is glucose 6-phosphatase which converts glycogen to glucose 6-phosphate and after that to glucose.

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                                                          Diagram: Conversion of glycogen to glucose

Symptoms:

Both of the liver cells and cells of renal convoluted tubules are loaded with glycogen. Ketosis and hyperlipidemia are as well available. Glycogen content in the liver can get higher to 15%. Glycogen accumulates as well in kidney. Huge enlargement of the liver, pronounced hypoglycemia in among the meals, failure of blood glucose to increase on administration of glycogen and convulsion are observed in this condition. Because glucose 6-phosphate cannot leave liver cells, there is compensatory raise in glycolysis leading to increased levels of pyruvic acid and lactic acid. The single treatment available is frequent feeding to prevent hypoglycemia in Von- Gierke’s Disease.

 

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