ICD-10: E74.01

Von Gierke disease, classified under ICD-10 code E74.01, is a type of glycogen storage disease (GSD) characterized by a deficiency in the enzyme glucose-6-phosphatase. This deficiency leads to an inability to convert glycogen into glucose, resulting in significant metabolic disturbances. Below, we explore the clinical presentation, signs, symptoms, and patient characteristics associated with this condition.

Clinical Presentation

Age of Onset

Von Gierke disease typically presents in infancy or early childhood, often within the first year of life. Symptoms may become apparent shortly after weaning from breast milk, as the child transitions to a diet that requires more glucose production from glycogen stores[1][2].

Symptoms

The symptoms of von Gierke disease can vary in severity but commonly include:

• Hypoglycemia: Patients often experience low blood sugar levels, particularly during fasting periods, leading to symptoms such as irritability, lethargy, and seizures[1][3].
• Hepatomegaly: An enlarged liver is a hallmark of the disease, resulting from excessive glycogen accumulation[2][4].
• Growth Retardation: Children may exhibit delayed growth and development due to chronic energy deficiency[1][5].
• Lactic Acidosis: Elevated levels of lactic acid in the blood can occur, contributing to metabolic acidosis and further complicating the clinical picture[2][3].
• Hyperlipidemia: Increased levels of lipids in the blood are common, which can lead to additional complications[1][4].

Additional Signs

Patients may also present with:

• Doll-like Facies: Characteristic facial features, including a round face and thin limbs, may develop due to growth abnormalities[1][5].
• Gout: Increased uric acid levels can lead to gout, particularly in older children and adults[2][3].
• Bleeding Disorders: Some patients may experience easy bruising or bleeding due to liver dysfunction affecting clotting factors[1][4].

Patient Characteristics

Genetic Background

Von Gierke disease is inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene for a child to be affected. The disease is caused by mutations in the G6PC gene, which encodes the glucose-6-phosphatase enzyme[1][2].

Demographics

The condition affects both males and females equally and is found in various ethnic groups, although certain populations may have higher prevalence rates due to genetic factors[1][3].

Long-term Management

Patients with von Gierke disease require lifelong management, including dietary modifications to prevent hypoglycemia. This often involves frequent meals and the use of cornstarch or glucose supplements to maintain stable blood sugar levels[2][4]. Regular monitoring of metabolic parameters is essential to manage complications effectively.

Conclusion

Von Gierke disease, identified by ICD-10 code E74.01, presents with a range of clinical features primarily related to metabolic dysregulation due to glucose-6-phosphatase deficiency. Early recognition and management are crucial to mitigate the impact of the disease on growth and development, as well as to prevent acute metabolic crises. Ongoing research and advancements in treatment strategies continue to improve the quality of life for affected individuals.

Von Gierke disease, classified under ICD-10 code E74.01, is a type of glycogen storage disease (GSD) that primarily affects the liver and kidneys. This condition is characterized by the accumulation of glycogen due to a deficiency in the enzyme glucose-6-phosphatase, which is crucial for glucose metabolism. Below are alternative names and related terms associated with von Gierke disease.

Alternative Names for Von Gierke Disease

1. Glycogen Storage Disease Type I (GSD I): This is the most common alternative name, as von Gierke disease is classified as Type I among glycogen storage diseases.
2. Hepatic Glycogen Storage Disease: This term emphasizes the liver's role in the disease, as it is primarily a hepatic disorder.
3. Glucose-6-Phosphatase Deficiency: This name refers to the specific enzyme deficiency that causes the disease, highlighting the biochemical aspect of the condition.
4. Von Gierke Syndrome: Sometimes referred to as a syndrome, this term is used interchangeably with von Gierke disease.

Related Terms

1. Glycogen Storage Diseases (GSDs): This broader category includes various disorders characterized by abnormal glycogen metabolism, of which von Gierke disease is a part.
2. Metabolic Disorders: Von Gierke disease falls under the umbrella of metabolic disorders, which involve disruptions in normal metabolic processes.
3. Hypoglycemia: A common symptom of von Gierke disease, referring to abnormally low blood sugar levels due to impaired glucose release.
4. Lactic Acidosis: This condition can occur in patients with von Gierke disease due to the accumulation of lactic acid, resulting from anaerobic metabolism when glucose is not adequately available.
5. Hyperlipidemia: Elevated lipid levels in the blood are often seen in patients with von Gierke disease due to altered fat metabolism.

Conclusion

Understanding the alternative names and related terms for von Gierke disease is essential for accurate diagnosis, treatment, and communication within the medical community. The terminology reflects both the biochemical basis of the disease and its clinical manifestations, aiding healthcare professionals in managing this complex metabolic disorder effectively.

Von Gierke disease, classified under ICD-10 code E74.01, is a type of glycogen storage disease characterized by a deficiency in the enzyme glucose-6-phosphatase. This deficiency leads to the accumulation of glycogen in the liver and kidneys, resulting in various clinical manifestations. The diagnosis of von Gierke disease involves a combination of clinical evaluation, biochemical tests, and genetic analysis. Below are the key criteria used for diagnosis:

Clinical Criteria

1. Symptoms: Patients often present with symptoms such as:
   - Hypoglycemia (low blood sugar levels), particularly during fasting.
   - Hepatomegaly (enlarged liver) due to glycogen accumulation.
   - Growth retardation in children.
   - Lactic acidosis, hyperuricemia (high uric acid levels), and hyperlipidemia (high levels of fats in the blood) may also be observed[1][2].

2. Family History: A positive family history of glycogen storage diseases can support the diagnosis, as von Gierke disease is inherited in an autosomal recessive pattern[3].

Biochemical Tests

1. Blood Tests:
   - Hypoglycemia: Blood glucose levels are typically low during fasting episodes.
   - Lactic Acid Levels: Elevated lactic acid levels can indicate impaired gluconeogenesis.
   - Lipid Profile: Increased triglycerides and cholesterol levels may be present due to altered metabolism[2][3].

2. Urine Tests:
   - Urinary Glucose: The presence of glucose in the urine can be indicative, although it may not always be present in early stages.
   - Urinary Ketones: Low or absent ketones in the urine during hypoglycemic episodes can also be a clue[1].

Genetic Testing

1. Molecular Genetic Testing: Identification of mutations in the G6PC gene, which encodes the glucose-6-phosphatase enzyme, can confirm the diagnosis. Genetic testing is particularly useful in ambiguous cases or for family planning purposes[2][3].

Liver Biopsy

1. Histological Examination: A liver biopsy may be performed to assess glycogen accumulation in liver tissue. This can provide direct evidence of the disease, although it is less commonly used now due to advancements in genetic testing[1].

Conclusion

The diagnosis of von Gierke disease (ICD-10 code E74.01) is multifaceted, relying on clinical presentation, biochemical abnormalities, genetic testing, and, in some cases, liver biopsy. Early diagnosis is crucial for managing the condition effectively, as it can help prevent complications associated with hypoglycemia and metabolic disturbances. If you suspect von Gierke disease, it is essential to consult a healthcare professional for a comprehensive evaluation and appropriate testing.

Von Gierke disease, classified under ICD-10 code E74.01, is a type of glycogen storage disease (GSD) characterized by a deficiency in the enzyme glucose-6-phosphatase. This deficiency leads to an accumulation of glycogen in the liver and kidneys, resulting in various metabolic complications. The management of von Gierke disease focuses on dietary modifications, pharmacological interventions, and monitoring for complications.

Dietary Management

Frequent Carbohydrate Intake

One of the cornerstone treatments for von Gierke disease is the implementation of a high-carbohydrate diet, which is essential to maintain blood glucose levels. Patients are typically advised to consume carbohydrates every 2-3 hours to prevent hypoglycemia, especially during the night. This often includes:

• Complex Carbohydrates: Foods such as whole grains, fruits, and vegetables are encouraged due to their slow digestion and sustained glucose release.
• Cornstarch: Uncooked cornstarch is frequently used as a nighttime snack to provide a slow release of glucose during fasting periods.

Avoidance of Simple Sugars

Patients are generally advised to avoid simple sugars, which can lead to rapid spikes in blood glucose followed by a crash, exacerbating metabolic instability.

Pharmacological Interventions

Allopurinol

Allopurinol may be prescribed to manage hyperuricemia, a common complication in von Gierke disease due to increased purine metabolism. This medication helps to lower uric acid levels and reduce the risk of gout and kidney stones.

Other Medications

In some cases, medications that stimulate gluconeogenesis or improve metabolic control may be considered, although their use is less common and should be tailored to individual patient needs.

Monitoring and Management of Complications

Regular Monitoring

Patients with von Gierke disease require regular monitoring of blood glucose levels, liver function tests, and renal function to detect any complications early. This includes:

• Liver Ultrasounds: To monitor for hepatomegaly and potential liver complications.
• Kidney Function Tests: To assess for any renal impairment.

Management of Associated Conditions

Patients may also need management for associated conditions such as hyperlipidemia and hypertension, which can arise due to metabolic dysregulation.

Conclusion

The treatment of von Gierke disease is multifaceted, focusing primarily on dietary management to maintain stable blood glucose levels, alongside pharmacological interventions to address complications. Regular monitoring is crucial to ensure optimal health outcomes and to manage any potential complications effectively. As research continues, new therapies may emerge, offering additional options for patients with this condition.

Von Gierke disease, classified under ICD-10 code E74.01, is a type of glycogen storage disease (GSD) characterized by a deficiency in the enzyme glucose-6-phosphatase. This enzyme is crucial for the conversion of glycogen to glucose, particularly in the liver and kidneys. The lack of this enzyme leads to an accumulation of glycogen in these organs, resulting in various clinical manifestations.

Clinical Features

Symptoms

Patients with von Gierke disease typically present with a range of symptoms, which may include:

• Hypoglycemia: Due to impaired glucose release into the bloodstream, affected individuals often experience low blood sugar levels, especially during fasting periods.
• Hepatomegaly: The liver becomes enlarged due to glycogen accumulation, which is often one of the first signs noticed in infants.
• Growth Retardation: Children may exhibit delayed growth and development due to chronic hypoglycemia and metabolic disturbances.
• Lactic Acidosis: Increased levels of lactic acid in the blood can occur, leading to metabolic acidosis.
• Hyperlipidemia: Elevated levels of lipids in the blood are common, resulting from altered fat metabolism.
• Renal Complications: Kidney involvement can lead to renal tubular acidosis and other renal issues.

Diagnosis

Diagnosis of von Gierke disease typically involves:

• Clinical Evaluation: A thorough history and physical examination to assess symptoms and family history.
• Biochemical Tests: Blood tests may reveal hypoglycemia, hyperlactatemia, and hyperlipidemia.
• Genetic Testing: Identification of mutations in the G6PC gene can confirm the diagnosis.
• Liver Biopsy: A biopsy may be performed to assess glycogen content and enzyme activity.

Management and Treatment

Management of von Gierke disease focuses on maintaining normal blood glucose levels and preventing complications. Key strategies include:

• Frequent Feedings: Patients are often advised to consume carbohydrates regularly to prevent hypoglycemia.
• Cornstarch Therapy: Uncooked cornstarch can be administered at night to provide a slow release of glucose.
• Monitoring: Regular monitoring of blood glucose levels is essential to manage hypoglycemia effectively.
• Liver Transplantation: In severe cases, particularly when there are significant complications, liver transplantation may be considered.

Prognosis

With appropriate management, individuals with von Gierke disease can lead relatively normal lives, although they may face challenges related to metabolic control and growth. Long-term follow-up is necessary to monitor for potential complications, including liver disease and metabolic disorders.

In summary, von Gierke disease (ICD-10 code E74.01) is a serious metabolic disorder that requires careful management to mitigate its effects on health and development. Early diagnosis and intervention are crucial for improving outcomes in affected individuals.