GeneHealth - Your precision medicine

Hereditary Fructose Intolerance Syndrome

Disease Details

Family Health Simplified

Buy Membership

Description: Hereditary fructose intolerance is a genetic disorder that affects the body's ability to metabolize fructose, leading to severe hypoglycemia and other symptoms upon ingestion of fructose-containing foods.
Type: Hereditary fructose intolerance syndrome is an autosomal recessive disorder.
Signs And Symptoms: Hereditary fructose intolerance (HFI) is a genetic condition affecting the metabolism of fructose.

**Signs and Symptoms**:
- Severe abdominal pain
- Vomiting
- Hypoglycemia (low blood sugar)
- Jaundice (yellowing of the skin and eyes)
- Hepatomegaly (enlarged liver)
- Failure to thrive in infants
- Irritability
- Diarrhea after consuming foods containing fructose, sucrose, or sorbitol

Note that symptoms typically appear after the introduction of fructose-containing food into the diet. If left untreated, HFI can lead to serious complications including liver and kidney damage.
Prognosis: The prognosis for individuals with hereditary fructose intolerance (HFI) can be positive if the condition is diagnosed early and properly managed. Adhering to a strict diet that eliminates fructose, sucrose, and sorbitol can prevent the acute symptoms and long-term complications associated with the disorder. However, if the condition is not properly managed, it can lead to severe liver damage, growth retardation, and other serious health issues. Regular monitoring and dietary adjustments can help maintain a good quality of life for those affected.
Onset: The onset of Hereditary Fructose Intolerance (HFI) typically occurs in infancy or early childhood. Symptoms usually appear after the introduction of fructose, sucrose, or sorbitol into the diet, often through fruit, honey, or certain vegetables.
Prevalence: Hereditary fructose intolerance (HFI) is a rare genetic disorder. Its prevalence is estimated to be approximately 1 in 20,000 to 1 in 30,000 live births in European populations.
Epidemiology: Hereditary fructose intolerance (HFI) is a rare genetic disorder caused by a deficiency of the enzyme aldolase B. Its prevalence is estimated to be between 1 in 20,000 to 1 in 30,000 live births. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder. It's more common in populations with a higher rate of consanguinity.
Intractability: Hereditary Fructose Intolerance (HFI) is not entirely intractable. While it is a lifelong condition with no cure, it can be effectively managed through strict dietary restrictions. Individuals with HFI must avoid foods containing fructose, sucrose, and sorbitol to prevent symptoms and complications. Proper dietary management can help those with HFI lead relatively normal lives.
Disease Severity: Hereditary fructose intolerance (HFI) is a metabolic disorder caused by a deficiency of the enzyme aldolase B. This leads to the accumulation of fructose-1-phosphate in the liver, kidneys, and intestines, resulting in symptoms that appear after the ingestion of fructose, sucrose, or sorbitol.

- **Disease Severity**:
- Severity can vary significantly among individuals.
- Symptoms typically include hypoglycemia, vomiting, abdominal pain, jaundice, hepatomegaly, and potential liver and kidney damage.
- If untreated, it can lead to severe complications like liver and kidney failure, growth retardation, and even death.

- **Early Diagnosis and Management**:
- Avoiding foods containing fructose, sucrose, and sorbitol can prevent symptoms and complications.
- With appropriate dietary management, individuals can lead relatively normal lives without major complications.
Healthcare Professionals: Disease Ontology ID - DOID:9869
Pathophysiology: Hereditary fructose intolerance (HFI) is a genetic metabolic disorder caused by a deficiency of the enzyme aldolase B. This enzyme is crucial for the proper metabolism of fructose, primarily found in the liver, kidney, and small intestine.

Pathophysiology:
1. **Enzyme Deficiency**: The deficiency in aldolase B results in the inability to properly break down fructose-1-phosphate, a metabolite of fructose.
2. **Intracellular Toxicity**: Accumulation of fructose-1-phosphate within cells leads to depletion of inorganic phosphate and an increase in intracellular phosphate.
3. **Hepatic Dysfunction**: The depletion of phosphate impairs glycolysis and gluconeogenesis, leading to hypoglycemia and lactic acidosis.
4. **Liver Damage**: Continuous accumulation of fructose-1-phosphate results in hepatic dysfunction, which can cause liver enlargement, jaundice, and potentially liver failure.
5. **Systemic Effects**: The effects of inhibited energy production and toxic metabolite build-up extend to kidney dysfunction and other systemic symptoms.

Patients typically present symptoms when they start consuming fructose or sucrose, which can lead to severe hypoglycemia, abdominal pain, vomiting, and growth failure if untreated.
Carrier Status: Hereditary Fructose Intolerance (HFI) is an autosomal recessive disorder. Carriers of the condition have one mutated copy of the ALDOB gene but do not exhibit symptoms. It typically requires both parents to be carriers for a child to be affected. Non-affected individuals (nan) are either non-carriers or have only one mutated copy of the gene and show no symptoms.
Mechanism: Hereditary Fructose Intolerance (HFI) is a genetic disorder resulting from a deficiency of the enzyme aldolase B. The molecular mechanism underlying HFI involves mutations in the ALDOB gene, which encodes the enzyme aldolase B. This enzyme is crucial for the metabolism of fructose, particularly in the liver, kidney, and small intestine.

When aldolase B activity is deficient or absent due to these mutations, fructose-1-phosphate accumulates in the cells. This accumulation leads to a depletion of intracellular phosphate pools, which in turn inhibits glycogenolysis and gluconeogenesis. As a result, individuals with HFI experience hypoglycemia (low blood sugar levels) and a range of metabolic disturbances when they ingest fructose, sucrose, or sorbitol.

In summary, the molecular mechanism of HFI involves:
1. Mutations in the ALDOB gene.
2. Deficiency of aldolase B enzyme activity.
3. Accumulation of fructose-1-phosphate.
4. Depletion of intracellular phosphate pools.
5. Inhibition of glycogenolysis and gluconeogenesis.

These disruptions lead to the clinical manifestations of HFI, including severe hypoglycemia, abdominal pain, vomiting, and potential long-term liver and kidney damage if not managed appropriately.
Treatment: Hereditary Fructose Intolerance (HFI) is a genetic condition where the body lacks the enzyme aldolase B necessary to metabolize fructose. The primary treatment involves a strict avoidance of foods and beverages containing fructose, sucrose, and sorbitol. This typically includes eliminating fruits, sweets, and certain vegetables from the diet. In severe cases, consultation with a dietitian can help manage and plan a safe and balanced diet.
Compassionate Use Treatment: For Hereditary Fructose Intolerance (HFI), there are no specific compassionate use treatments or widely recognized off-label or experimental treatments currently available. Management primarily involves strict dietary avoidance of fructose, sucrose, and sorbitol to prevent symptoms and complications. In some cases where dietary management is challenging, working closely with a dietitian and genetic counselor may help in developing an appropriate plan. Always consult with a healthcare provider for the most up-to-date information and personalized medical advice.
Lifestyle Recommendations: Hereditary Fructose Intolerance (HFI) is a genetic disorder that affects the body's ability to metabolize fructose. People with this condition must manage their diet carefully to avoid symptoms and complications.

### Lifestyle Recommendations for HFI:

1. **Strict Avoidance of Fructose, Sucrose, and Sorbitol:**
- **Fructose** is found in fruits, honey, and some vegetables.
- **Sucrose** (table sugar) is found in many processed foods, candies, and sweetened beverages.
- **Sorbitol**, a sugar alcohol, is often used as a sweetener in sugar-free products.

2. **Careful Reading of Food Labels:**
- Always check ingredient lists on packaged foods for fructose, sucrose, and sorbitol.
- Be wary of "hidden" sources of these sugars in prepackaged and processed foods.

3. **Consultation with a Dietitian:**
- Work with a dietitian who specializes in metabolic disorders to create a balanced, fructose-free diet plan.
- Ensure adequate intake of essential nutrients that might be limited due to dietary restrictions.

4. **Education and Awareness:**
- Educate yourself, family, and caregivers about which foods and ingredients to avoid.
- Inform restaurants about your condition when dining out to ensure safe food choices.

5. **Regular Medical Follow-Up:**
- Regular visits to a healthcare provider to monitor health and nutritional status.
- Prompt management of any symptoms or complications arising from accidental ingestion.

By carefully managing their diet and being vigilant about food choices, individuals with HFI can lead healthy lives and avoid the adverse effects associated with their condition.
Medication: For hereditary fructose intolerance syndrome, there is no specific medication to cure the condition. Management primarily involves a strict dietary restriction to avoid fructose, sucrose, and sorbitol, which are found in many fruits, sweets, and processed foods. Regular monitoring by healthcare professionals and nutritional guidance are essential to prevent complications and ensure proper nutrition.
Repurposable Drugs: Currently, there are no well-established repurposable drugs for treating hereditary fructose intolerance (HFI). The main management strategy for this genetic disorder involves the strict avoidance of fructose, sucrose, and sorbitol in the diet to prevent symptoms and complications.
Metabolites: For hereditary fructose intolerance syndrome, the key metabolites involved are:

1. Fructose-1-phosphate: Accumulates in the liver, kidneys, and intestines due to the deficiency of the enzyme aldolase B.
2. Fructose: Increased levels after ingestion because it is metabolized improperly.
3. Sorbitol: A precursor to fructose, can also be elevated due to impaired metabolism.

These metabolic abnormalities can lead to hypoglycemia, liver dysfunction, and other symptoms associated with the disorder.
Nutraceuticals: There are no specific nutraceuticals recommended for the treatment or management of hereditary fructose intolerance (HFI). The primary approach for managing HFI is strict dietary avoidance of fructose, sucrose, and sorbitol to prevent symptoms and complications. Nutraceuticals or supplements have not been shown to be effective in treating or mitigating the condition.
Peptides: Hereditary Fructose Intolerance (HFI) is not directly related to peptides. It is a metabolic disorder caused by a deficiency in the enzyme aldolase B, which is necessary for the proper metabolism of fructose. When individuals with HFI consume fructose, sucrose, or sorbitol, they experience severe reactions due to the accumulation of fructose-1-phosphate in the liver, kidneys, and small intestine.

Keywords:
- Enzyme: Aldolase B deficiency
- Metabolic disorder
- Fructose, sucrose, and sorbitol intolerance