Definition:
Glycogen storage disease type 1B, also known as von Gierke's disease, is the most common form among the glycogen storage diseases. An enzyme glucose-6-phosphate deficiency is the cause of this, affecting the liver's ability in producing free glucose from gluconeogenesis and glycogen. This in turn, may result in hypoglycemia.
Diagnosis:
If a patient exhibits the symptoms mentioned above, diagnosis of glycogen storage type 1B is suspected. If he shows additional symptoms such as hyperuricemia, enlarged kidneys, lactic acidosis, and hypertriglyceridemia, then the diagnosis for this disease strengthens.
Monitored fasting is also another procedure in the diagnosis for GSD type 1B. If he is positive for the disease, he will develop hypoglycemia within 6 hours.
To confirm this, a liver biopsy will be conducted accompanied by an electron microscopy.
Symptoms and Signs:
The symptoms usually present themselves by 2 years of age. These include hepatomegaly, seizures, other appearances of severe fasting hypoglycemia, vomiting sometimes accompanied by minor illness and hypoglycemia, respiratory difficulties, and hyperventilation. ................................................................................................................................................
Glycogen storage disease type 1B is autosomal recessive in nature, although the carriers, or the patient's parents, tend to be asymptomatic. Its incidence in the United States is 1 in 100,000 or 200,000.
Causes:
In order to prevent hypoglycemia, treatment must include regular feeding of glucose and start products. The dietary carbohydrate must equivalent the body's glucose production rate in 24 hours. Ideally the diet should be composed of 10-15% protein, 20-25% fat, and 65-70% carbohydrate. One-thirds of the carbohydrates should be supplied at nighttime so that patients do not go over 4 hours without any carbohydrates.
Other forms of sugars, such as fructose and galactose, must be avoided.
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glycogenstoragediseasetype1b
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