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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