VON GIERKE DISEASE
6 year old boy with frequent episodes of weakness.
Weakness accompanied by sweating, feeling of dizziness; weakness had been noticed since about age 4, but had become more noticeable when child entered school and was challenged by other children during recess. Enlarged abdomen, due to grossly enlarged liver. Kidneys also enlarged. Poor musculature. Normal heart.
Von Gierke disease is a condition in which the body cannot break down glycogen for energy. Glycogen is stored in the liver and muscles and is normally broken down into glucose when you do not eat. Von Gierke disease is also called Type I glycogen storage disease (GSD I) or glucose-6-phosphatase deficiency. Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys that can result in an enlarged liver and kidneys and growth retardation leading to short stature.
GSDI is associated with abnormalities in the G6PC gene (GSDIA) or SLC37A4 gene (GSDIB) that result in enzyme deficiencies that cause excess amounts of glycogen accumulation in the body tissues and low levels of glucose in the blood. This enzyme deficiency also results in derangement of other important metabolites in the body thus causing imbalance or excessive accumulation of these metabolites.
Signs & Symptoms (Symptoms of GSDI usually begin at three to four months of age)
👉 low blood sugar level (hypoglycemia)
👉 enlargement of the liver (hepatomegaly), kidney (nephromegaly),
👉 elevated levels of lactate, uric acid and lipids (both total lipids and triglycerides),
👉 delayed growth and development and muscle weakness.
👉 Constant hunger and need to eat often
👉 Easy bruising and nosebleeds
👉 Many female patients have had successful pregnancies
👉 low blood sugar level (hypoglycemia)
👉 enlargement of the liver (hepatomegaly), kidney (nephromegaly),
👉 elevated levels of lactate, uric acid and lipids (both total lipids and triglycerides),
👉 delayed growth and development and muscle weakness.
👉 Constant hunger and need to eat often
👉 Easy bruising and nosebleeds
👉 Many female patients have had successful pregnancies
Treatment
👉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.
👉In some children, a feeding tube is placed through the nose into the stomach to provide sugars or uncooked cornstarch throughout the night. The tube can be put in at bedtime and taken out each morning.
👉A medication called allopurinol can lower blood uric acid and decrease the risk for gout. Other medications may include those for kidney disease, high lipids, and to increase the cells that fight infection.
👉Persons with von Gierke disease cannot properly break down fruit or milk sugar. It is best to avoid these product