ICD-10: E74.12

Hereditary fructose intolerance (HFI) is a genetic disorder characterized by the inability to metabolize fructose, a sugar found in many fruits, vegetables, and sweeteners. This condition is caused by a deficiency of the enzyme aldolase B, which is crucial for the breakdown of fructose in the liver. Below is a detailed clinical description and relevant information regarding ICD-10 code E74.12.

Clinical Description of Hereditary Fructose Intolerance

Etiology

Hereditary fructose intolerance is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to manifest the condition. The gene responsible for this disorder is ALDOB, located on chromosome 9. Mutations in this gene lead to a deficiency in the aldolase B enzyme, which is essential for the conversion of fructose-1-phosphate into dihydroxyacetone phosphate and glyceraldehyde, both of which are necessary for energy production and metabolism.

Pathophysiology

When individuals with HFI consume fructose, it accumulates in the liver, leading to toxic effects. The accumulation of fructose-1-phosphate inhibits the breakdown of glycogen and the production of glucose, resulting in hypoglycemia (low blood sugar) and other metabolic disturbances. This can lead to severe symptoms, particularly after the ingestion of fructose or sucrose (which is broken down into fructose and glucose).

Clinical Manifestations

Symptoms of hereditary fructose intolerance typically appear in infancy or early childhood, often after the introduction of fructose-containing foods. Common clinical features include:

• Hypoglycemia: Symptoms may include irritability, lethargy, and seizures.
• Abdominal pain: This can occur after the consumption of fructose.
• Vomiting: Often occurs shortly after eating fructose-rich foods.
• Failure to thrive: Due to avoidance of foods that contain fructose and sucrose.
• Liver dysfunction: Prolonged exposure to fructose can lead to liver damage, characterized by hepatomegaly (enlarged liver) and elevated liver enzymes.

Diagnosis

Diagnosis of HFI is typically made through a combination of clinical evaluation, dietary history, and biochemical tests. Genetic testing can confirm mutations in the ALDOB gene. Additionally, a fructose tolerance test may be performed, but it is not commonly used due to the risk of severe reactions in affected individuals.

Management

The primary treatment for hereditary fructose intolerance is strict dietary restriction of fructose and sucrose. This includes avoiding:

• Fruits
• Honey
• Sweeteners containing fructose (e.g., high-fructose corn syrup)
• Certain vegetables

Patients are often advised to read food labels carefully and to be aware of hidden sources of fructose in processed foods.

Conclusion

Hereditary fructose intolerance is a serious metabolic disorder that requires lifelong dietary management to prevent acute and chronic complications. Awareness of the condition and its dietary restrictions is crucial for affected individuals and their families. Regular follow-up with healthcare providers is essential to monitor growth, nutritional status, and any potential complications associated with the disorder.

For further information, healthcare professionals can refer to the ICD-10-CM code E74.12, which specifically categorizes hereditary fructose intolerance within the broader classification of carbohydrate metabolism disorders.

Hereditary fructose intolerance (HFI) is a rare genetic disorder characterized by the inability to metabolize fructose due to a deficiency in the enzyme aldolase B. This condition can lead to a range of clinical presentations, signs, symptoms, and specific patient characteristics. Below is a detailed overview of these aspects related to ICD-10 code E74.12.

Clinical Presentation

Onset and Diagnosis

• Age of Onset: Symptoms typically present in infancy or early childhood, often after the introduction of fructose-containing foods such as fruits, honey, and certain vegetables.
• Diagnosis: Diagnosis is usually confirmed through genetic testing, enzyme activity assays, or dietary history.

Symptoms

Patients with hereditary fructose intolerance may exhibit a variety of symptoms, particularly after the ingestion of fructose or sucrose. Common symptoms include:

• Gastrointestinal Symptoms:
• Nausea and vomiting
• Abdominal pain and cramping
• Diarrhea

• Bloating and flatulence

• Metabolic Symptoms:

• Hypoglycemia (low blood sugar) due to impaired gluconeogenesis
• Lethargy and fatigue
• Jaundice (in severe cases)

• Hepatomegaly (enlarged liver)

• Neurological Symptoms:

• Irritability and behavioral changes, particularly in infants
• Seizures (in severe cases due to hypoglycemia)

Signs

Physical examination may reveal several signs associated with HFI, including:

• Hepatomegaly: Enlargement of the liver, which may be palpable during a physical exam.
• Jaundice: Yellowing of the skin and eyes due to liver dysfunction.
• Failure to thrive: Poor growth and weight gain in infants and children due to dietary restrictions and malabsorption.

Patient Characteristics

Genetic Background

• Inheritance Pattern: HFI is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene for a child to be affected.
• Prevalence: The condition is rare, with varying prevalence across different populations. It is more commonly reported in certain ethnic groups.

Demographics

• Age: Most commonly diagnosed in infants and young children, but some cases may go undiagnosed until later in life.
• Gender: There is no significant gender predisposition; both males and females are equally affected.

Dietary History

• Fructose Exposure: Patients often have a history of consuming fructose-rich foods, which triggers symptoms. This includes fruits, sweeteners like honey, and processed foods containing high fructose corn syrup.

Family History

• Family Background: A family history of metabolic disorders may be present, as HFI is a genetic condition. Parents may be asymptomatic carriers.

Conclusion

Hereditary fructose intolerance is a significant metabolic disorder that requires careful management to avoid fructose and sucrose in the diet. Early diagnosis and dietary intervention are crucial to prevent severe complications associated with the condition. Patients typically present with gastrointestinal and metabolic symptoms following the ingestion of fructose, and a thorough understanding of the clinical presentation, signs, symptoms, and patient characteristics is essential for healthcare providers in managing this condition effectively.

Hereditary fructose intolerance (HFI) is a genetic disorder that affects the body's ability to metabolize fructose, a sugar found in many fruits and sweeteners. The ICD-10-CM code for this condition is E74.12. Below are alternative names and related terms associated with this condition.

Alternative Names for Hereditary Fructose Intolerance

1. Fructose Intolerance: This term is often used interchangeably with hereditary fructose intolerance, although it can also refer to other forms of fructose intolerance that are not genetic.

2. Fructose Malabsorption: While this term typically refers to a different condition where fructose is not absorbed properly in the intestines, it is sometimes confused with hereditary fructose intolerance.

3. Hereditary Fructose Malabsorption: This term may be used to describe the genetic aspect of the condition, emphasizing the hereditary nature of the disorder.

4. Aldolase B Deficiency: This is a more technical term that refers to the specific enzyme deficiency responsible for HFI. Aldolase B is crucial for the metabolism of fructose, and its deficiency leads to the symptoms associated with HFI.

5. Fructose-1-Phosphate Aldolase Deficiency: This is another name that highlights the enzymatic deficiency involved in the disorder.

Related Terms

1. Disorders of Fructose Metabolism: This broader category includes various conditions related to the metabolism of fructose, including hereditary fructose intolerance.

2. Genetic Metabolic Disorder: HFI falls under this category, as it is a genetic condition that affects metabolic processes.

3. Carbohydrate Metabolism Disorders: HFI is a specific type of carbohydrate metabolism disorder, which encompasses various conditions affecting the body's ability to process carbohydrates.

4. Dietary Fructose Restriction: This term refers to the dietary management strategy for individuals with HFI, emphasizing the need to avoid fructose-containing foods.

5. Fructose Toxicity: This term may be used to describe the harmful effects of fructose accumulation in individuals with HFI, leading to various symptoms and complications.

Conclusion

Understanding the alternative names and related terms for hereditary fructose intolerance can help in recognizing the condition and its implications. It is essential for healthcare providers and patients to be aware of these terms to facilitate accurate diagnosis and effective management of the disorder. If you have further questions or need more specific information, feel free to ask!

Hereditary fructose intolerance (HFI) is a genetic disorder characterized by the inability to metabolize fructose due to a deficiency in the enzyme aldolase B. The diagnosis of HFI is based on a combination of clinical evaluation, biochemical testing, and genetic analysis. Below are the key criteria used for diagnosing HFI, which corresponds to the ICD-10 code E74.12.

Clinical Presentation

1. Symptoms: Patients typically present with symptoms after the introduction of fructose or sucrose into their diet. Common symptoms include:
   - Severe abdominal pain
   - Nausea and vomiting
   - Hypoglycemia (low blood sugar)
   - Jaundice
   - Hepatomegaly (enlarged liver)
   - Failure to thrive in infants

2. Family History: A positive family history of HFI can support the diagnosis, as the condition is inherited in an autosomal recessive manner.

Biochemical Testing

1. Fructose Tolerance Test: This test involves administering fructose and monitoring for adverse reactions. In individuals with HFI, ingestion of fructose leads to significant gastrointestinal distress and hypoglycemia.

2. Enzyme Activity Assay: Measurement of aldolase B enzyme activity in liver tissue or fibroblasts can confirm the diagnosis. Reduced or absent enzyme activity is indicative of HFI.

3. Urine Analysis: The presence of fructose in urine can be tested, although it may not always be conclusive.

Genetic Testing

1. Molecular Genetic Testing: Identification of mutations in the ALDOB gene, which encodes the aldolase B enzyme, can confirm the diagnosis. Common mutations associated with HFI include specific point mutations and deletions.

Differential Diagnosis

1. Exclusion of Other Conditions: It is essential to rule out other metabolic disorders that may present with similar symptoms, such as galactosemia or other carbohydrate metabolism disorders.

Summary

In summary, the diagnosis of hereditary fructose intolerance (ICD-10 code E74.12) involves a thorough clinical assessment, biochemical testing to evaluate fructose metabolism, and genetic testing to identify mutations in the ALDOB gene. Early diagnosis is crucial to prevent complications associated with the ingestion of fructose, which can lead to severe health issues. If you suspect HFI, it is important to consult a healthcare professional for appropriate testing and management.

Hereditary fructose intolerance (HFI), classified under ICD-10 code E74.12, is a genetic disorder that affects the body's ability to metabolize fructose, a sugar found in many fruits, vegetables, and sweeteners. This condition arises from a deficiency in the enzyme aldolase B, which is crucial for breaking down fructose in the liver. The accumulation of fructose-1-phosphate can lead to severe hypoglycemia, liver damage, and other metabolic disturbances if not managed properly. Here’s a detailed overview of the standard treatment approaches for HFI.

Dietary Management

Elimination of Fructose

The cornerstone of managing hereditary fructose intolerance is the strict avoidance of fructose and sucrose in the diet. This includes:

• Avoiding Fruits and Vegetables: All fruits (including fruit juices) and many vegetables contain fructose and should be eliminated.
• Avoiding Sweeteners: Common sweeteners such as table sugar (sucrose), high-fructose corn syrup, and honey must be avoided as they can exacerbate symptoms.
• Reading Labels: Patients must be vigilant about reading food labels to identify hidden sources of fructose and sucrose in processed foods.

Alternative Foods

Patients are encouraged to consume foods that are safe and do not contain fructose or sucrose. These include:

• Starches: Foods like potatoes, rice, and corn are generally safe.
• Proteins: Meat, fish, eggs, and dairy products are typically safe options.
• Certain Vegetables: Non-fructose containing vegetables such as leafy greens, carrots, and bell peppers can be included.

Nutritional Counseling

Professional Guidance

Engaging with a registered dietitian or nutritionist who specializes in metabolic disorders is crucial. They can help:

• Develop a Balanced Diet: Ensure that the diet is nutritionally adequate despite the restrictions.
• Monitor Growth and Development: Particularly in children, to ensure they are meeting their developmental milestones.

Education and Support

Education about the condition and its dietary implications is vital for both patients and their families. Support groups can also provide emotional and practical assistance.

Monitoring and Management of Symptoms

Regular Check-ups

Patients should have regular follow-ups with healthcare providers to monitor for any complications arising from the condition, such as liver function tests and metabolic assessments.

Emergency Preparedness

Patients and caregivers should be educated on recognizing symptoms of fructose intolerance, such as abdominal pain, vomiting, and hypoglycemia. Having an emergency plan in place, including access to glucose if hypoglycemia occurs, is essential.

Conclusion

In summary, the management of hereditary fructose intolerance primarily revolves around strict dietary restrictions to avoid fructose and sucrose. Regular monitoring and nutritional counseling play critical roles in ensuring that patients maintain a balanced diet and avoid complications. With proper management, individuals with HFI can lead healthy lives, but adherence to dietary guidelines is crucial for preventing adverse health effects associated with this condition.