Von Gierke Disease

Below you will find more information about Von Gierke Disease from Medigest. If you believe that you are suffering from any of the symptoms of Von Gierke Disease it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Von Gierke Disease and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Von Gierke Disease comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Glycogen storage disease type I otherwise known as the Von Gierke's disease, is a genetic disease that is said to be a most common glycogen storage disease. It impairs the person's ability of the liver to produce free glucose from glycogen and from gluconeogenesis.

Diagnosis

Diagnosis includes examination and observation if whether or not the hepatomegaly, fasting hypoglycemia and slow growth are accompanied by lactic acidosis, enlarged kidneys and hypertriglyceridemia. Liver biopsy with electron microscopy and assay of glucose-6-phosphates activity in the tissue and gene testing are the most direct diagnosis to confirm the condition.

Treatment

Treatment includes frequent feeding of food in high glucose or starch which is readily digested to become glucose. Strict diet to compensate the liver of inability to provide sugar is also advice.

Symptoms and Signs

Symptoms includes seizures and other manifestation of sever fasting hypoglycemia, hepatomegaly with the occurrence of abdominal protuberance, hyperventilation and apparent respiratory distress due to metabolic acidosis and vomiting resulting to metabolic acidosis and accompanied by hypoglycemia.

Causes

Von Gierke's Disease is a genetic disease which is said to result from the deficiency of the enzyme glucose-6-phosphatase (Kremer, Broelsh, D., et.al. (1994) Atlas of Liver, Pancreas and Kidney Transplantation, Thieme, p. 151).

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