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Glycogen Storage Disease Type 1/ Von Gierke disease : Clinical Biochemistry by Dr Prakash Mungli
von Gierke disease
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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.
Von Gierke disease is also called Type I glycogen storage disease (GSD I).
Causes
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Von Gierke disease occurs when the body lacks the protein (enzyme) that releases glucose from glycogen. This causes abnormal amounts of glycogen to build up in certain tissues. When glycogen is not broken down properly, it leads to 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.
Symptoms
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These are symptoms of von Gierke disease:
Constant hunger and need to eat often
Easy bruising and nosebleeds
Fatigue
Irritability
Puffy cheeks, thin chest and limbs, and swollen belly
Exams and Tests
Your health care provider will perform a physical exam.
The exam may show signs of:
Delayed puberty
Enlarged liver
Gout
Inflammatory bowel disease
Liver tumors
Severe low blood sugar
Stunted growth or failure to grow
Children with this condition are usually diagnosed before age 1.
Tests that may be done include:
Biopsy of liver or kidney
Blood sugar test
Genetic testing
Lactic acid blood test
Triglyceride level
Uric acid blood test
If a person has this disease, test results will show low blood sugar and high levels of lactate (produced from lactic acid), blood fats (lipids), and uric acid.
Treatment
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The goal of treatment is to avoid low blood sugar. Eat frequently during the day, especially foods that contain carbohydrates (starches). Older children and adults may take cornstarch by mouth to increase their carbohydrate intake.
In some children, a feeding tube is placed through their nose into the stomach throughout the night to provide sugars or uncooked cornstarch. The tube can be taken out each morning. Alternatively, a gastrostomy tube (G-tube) can be placed to deliver food directly to the stomach overnight.
A medicine to lower uric acid in the blood and decrease the risk for gout may be prescribed. Your provider may also prescribe medicines to treat kidney disease, high lipids, and to increase the cells that fight infection.
People with von Gierke disease cannot properly break down fruit or milk sugar. It is best to avoid these products.
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27 авг 2021
