Von Gierke Disease

Von Gierke disease is a condition in which the body cannot break down glycogen. Glycogen is a form of sugar (glucose) that is stored in the liver and muscles. It is normally broken down into glucose to give you more energy when you need it. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys and small intestines, impairs their ability to function normally.

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Molecular Basis of the disease

Von Gierke disease is caused by glucose-6-phosphate, a nine- helical endoplasmic reticulum transmembrane protein. The mutations are identified including 48 mutations resulting in single-amino acid substitutions. Entering this stage there are only 19 genetics mutations that have been functionally characterized. The 5 active site mutations and 22 of 31 helical mutations completed, but only 5 of the 13 non helical mutants were devoid.

Symptoms & Causes

The symptoms of the disease include hunger, easy bruising, nosebleeds, Irritability and puffy cheeks. The goal of the treatment is to avoid low blood sugar. Von Gierke disease is inherited, which means it is passed down through families. If both parents carry a nonworking copy of the gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease.


Von Gierke is a autosomal recessive pattern. Many people carry one copy of the abnormal gene. Two abnormal copies are needed for Von Gierke disease to develop.

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Work Citedhttp://www.medindia.net/patients/patientinfo/images/Von-Gierke-Disease1.jpghttps://medlineplus.gov/ency/article/000338.htm