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.

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

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.

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.

Von-Gierke Disease, also known as Glycogen Storage Disease I is a rare genetic disorder characterized by the inability of the body to break down glycogen. Glycogen is the stored form of glucose present in the liver and muscles, which is usually broken down into simple glucose molecules to fuel the cells with energy.

• The condition occurs when the body lacks the absence of a specific enzyme, glucose-6-phosphatase that is responsible for converting glycogen into glucose.
• It will result in a build-up of glycogen in the liver, enlarging the liver and resulting in low blood sugar and gout.
• Since the disease is inherited, children whose parents carry the defective gene are more susceptible, accounting for 25% of all cases of developing the condition.
• The condition is inherited in an autosomal recessive pattern; a copy of the defective gene from the both parent is needed for the onset of this severe condition.
• Children who are diagnosed with the disorder have poor muscular growth, abnormal bleeding tendency, and stunted growth.
• A well-planned diet followed by the restriction of certain activities and drugs will ensure treatment for the relevant symptoms and complications.

Conditions
Cyanosis,Apnea hepatomegaly
Drugs
Antibiotics,Allopurinol,ACE inhibitors,Angiotensin-converting enzyme (ACE),Allopurinol
Symptoms
Constant hunger,Frequent need to eat often,Easy bruising,Nosebleeds,Fatigue,Irritation,Thin chest and limbs,Puffy cheeks

Glycogen breakdown is hindered, which leads to Von Gierke disease, commonly known as Type I glycogen storage disorder.
In those with Von Gierke illness, the body is unable to break down glucose for energy. A lack of an enzyme that discharges glucose from glycogen causes the illness. This causes excessive levels of glycogen to accumulate in some tissues. Type I glycogen storage disorder is another name for Von Gierke disease (GSD I). Low blood glucose results from inadequate glycogen breakdown.

Treatment

• Von Gierke Disease type 1a has no specific medical needs. Antibiotics are necessary for recurrent infections.
• Supplemental iron is administered orally.
• Granulocyte colony-stimulating factor administration for type 1b illness must occur every week (GCSF).
• GCSF increases the formation of blood cells that fight infections or lessen their impact (GSD1 causes a large decline in protective blood cells like neutrophils).
• Multivitamins, calcium, and vitamin D dietary supplements are frequently necessary.
• It could be necessary to take the medication allopurinol to lower high uric acid levels. When cholesterol levels are too high, medications from the statin and fibric acid families are utilized.
• The use of medications known as angiotensin-converting enzyme (ACE) inhibitors can help to prevent renal dysfunction.
• Microalbuminuria is a symptom of renal disease that is treated by ACE inhibitors.
• Calcium buildup in the kidneys may be avoided with the aid of citrate supplements. It might also stop kidney stones from forming.

Conditions
Cyanosis,Apnea hepatomegaly
Drugs
Antibiotics,Allopurinol,ACE inhibitors,Angiotensin-converting enzyme (ACE),Allopurinol
Symptoms
Constant hunger,Frequent need to eat often,Easy bruising,Nosebleeds,Fatigue,Irritation,Thin chest and limbs,Puffy cheeks