Von Gierke Disease: Symptoms, Diagnosis and Care

Von Gierke Disease, also known as Glycogen Storage Disease Type I, is a rare genetic disorder that affects how the body stores and releases sugar (glucose). It occurs due to a missing enzyme, leading to low blood sugar, swollen liver, and growth issues. Treatment includes a special diet with frequent meals to maintain blood sugar levels and prevent complications.

What Are the Symptoms of Von Gierke Disease?

This disorder disrupts glucose metabolism, causing various symptoms that require medical attention:

Enlarged liver
Low blood sugar levels
Growth delays
High blood levels of lactic acid
Hyperlipidemia
Kidney stones
Delayed motor skills development

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What Causes Von Gierke Disease?

Von Gierke Disease is caused by a genetic mutation affecting the G6PC gene.
This mutation leads to a deficiency in the enzyme glucose-6-phosphatase.
The deficiency prevents proper glycogen breakdown in the body.
As a result, glycogen abnormally accumulates in the liver and kidneys.
The disease is inherited when a person receives the defective gene from both parents.

What Are the Different Types of Von Gierke Disease?

There are different forms of Von Gierke Disease, each with distinct characteristics:

Type I: Deficiency in glucose-6-phosphatase, leading to impaired glucose metabolism and glycogen storage in the liver.
Type II: Caused by a deficiency in glucose-6-phosphate translocase, affecting glucose transport in liver cells.
Type III: Deficiency in glycogen debranching enzyme, resulting in glycogen breakdown issues and liver/muscle symptoms.
Type IV: Deficiency in glycogen branching enzyme, leading to abnormal glycogen storage in the liver and other tissues.
Type V: Deficiency in phosphorylase enzyme, affecting glycogen breakdown in muscle tissue and causing muscle weakness and fatigue.

Who Is at Risk for Von Gierke Disease?

The primary risk factor for Von Gierke Disease is genetic inheritance. If both parents carry a mutated gene, their child has a high risk of developing the condition. Other contributing factors include:

Family history of the disease
Consanguineous marriages (within close relatives)
Carbohydrate-rich Diet

How is Von Gierke Disease Diagnosed?

Early diagnosis is crucial for effective management. Doctors may use the following tests:

Blood tests to check glucose and lactate levels
Genetic testing to identify mutations in the G6PC gene
Liver biopsy for glycogen accumulation analysis
Imaging studies such as ultrasound or MRI
Enzyme assays to detect enzyme deficiencies

How Is Von Gierke Disease Treated?

Since there is no cure, treatment focuses on managing symptoms and preventing complications. Common approaches include:

Dietary Management

Frequent small meals rich in complex carbohydrates.
Avoidance of simple sugars to prevent blood sugar drops.
Cornstarch therapy to maintain stable blood glucose levels.

Medication & Monitoring

Medications such as allopurinol may help reduce uric acid buildup.
Continuous glucose monitoring to prevent hypoglycemia.

Genetic Counseling

Families affected by Von Gierke Disease can benefit from genetic counseling to understand inheritance patterns and risks for future generations.

Regular Medical Follow-Ups

Ongoing monitoring with a specialist in metabolic disorders is essential to track disease progression and adjust treatment plans as needed.

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What Are the Complications of Von Gierke Disease?

Von Gierke Disease can lead to various complications due to impaired glucose metabolism and glycogen accumulation. Proper management is essential to prevent long-term health issues.

Severe hypoglycemia (low blood sugar)
Liver enlargement (hepatomegaly)
Kidney dysfunction and kidney stones
Growth delays and delayed puberty
High levels of uric acid leading to gout
Lactic acidosis (excess lactic acid in the blood)
Hyperlipidemia (high blood fat levels), increasing the risk of heart disease
Weakened immune system, leading to frequent infections
Osteoporosis
Ulcers in the Mouth or Bowel

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Frequently Asked Questions

Currently, there is no cure for Von Gierke Disease. Treatment focuses on managing symptoms through dietary modifications and medications.

With proper management and treatment, individuals with Von Gierke Disease can lead relatively normal lives, although they may require lifelong monitoring and care.

Von Gierke Disease is congenital (present at birth), but adults may experience long-term complications like liver tumors and kidney problems if not managed properly.

Von Gierke Disease is caused by a glucose-6-phosphatase deficiency, preventing the liver from converting glycogen into glucose, leading to severe hypoglycemia.

Fructose and galactose bypass glycogen breakdown and worsen hypoglycemia, lactic acidosis, and fat accumulation in the liver. Avoiding these sugars helps prevent metabolic complications.

You should see a specialist if you or your child experience frequent hypoglycemia, excessive hunger, liver enlargement, failure to thrive, or metabolic issues requiring expert management.