Hereditary fructose intolerance

Definition

Hereditary fructose intolerance (HFI) is a genetic disorder that affects the body's ability to metabolize fructose due to a deficiency in the enzyme aldolase B. This condition leads to the accumulation of toxic substances when fructose is ingested, which can cause severe health issues. Understanding HFI is crucial as it highlights the impacts of carbohydrate metabolism disorders and the importance of dietary management for individuals affected by this inborn error of metabolism.

5 Must Know Facts For Your Next Test

1. HFI is inherited in an autosomal recessive manner, meaning both parents must carry the gene mutation for a child to be affected.
2. Individuals with HFI experience symptoms such as abdominal pain, vomiting, and hypoglycemia after consuming foods containing fructose or sucrose.
3. The only effective treatment for HFI is the strict avoidance of fructose, sucrose, and sorbitol in the diet to prevent toxic accumulation.
4. If not managed properly, HFI can lead to serious complications, including liver damage, renal failure, and severe metabolic disturbances.
5. Early diagnosis and dietary intervention are crucial for preventing long-term health issues associated with hereditary fructose intolerance.

Review Questions

• How does hereditary fructose intolerance affect carbohydrate metabolism, particularly in relation to aldolase B?
  • Hereditary fructose intolerance directly impacts carbohydrate metabolism by inhibiting the breakdown of fructose due to the deficiency of the enzyme aldolase B. When individuals with HFI consume fructose, it leads to the accumulation of toxic substances like fructose-1-phosphate, which disrupts normal metabolic processes. This inability to metabolize fructose results in various health problems, emphasizing the critical role of proper enzyme function in carbohydrate digestion.
• Discuss the dietary implications for individuals diagnosed with hereditary fructose intolerance and how it relates to overall nutritional therapy.
  • Individuals diagnosed with hereditary fructose intolerance must follow a strict diet that eliminates all sources of fructose, sucrose, and sorbitol. This dietary restriction requires careful planning and education about food choices to avoid potential health risks associated with ingesting these sugars. Nutritional therapy focuses on providing alternative sources of carbohydrates that are safe while ensuring adequate nutrition, highlighting the importance of individualized dietary interventions in managing this metabolic disorder.
• Evaluate the long-term effects of untreated hereditary fructose intolerance on an individual's health and quality of life.
  • Untreated hereditary fructose intolerance can lead to severe long-term health effects, including liver damage and renal failure due to ongoing exposure to fructose. The accumulation of toxic metabolites can disrupt normal bodily functions and result in significant complications. Additionally, the dietary restrictions imposed by HFI can impact an individual's social life and overall quality of life, making it essential for proper diagnosis and management to mitigate these challenges and maintain health.

Related terms

Aldolase B: Aldolase B is an enzyme that plays a key role in the breakdown of fructose and is essential for normal carbohydrate metabolism.

Fructose: Fructose is a simple sugar found in many foods, particularly fruits and honey, which can be problematic for individuals with hereditary fructose intolerance.

Inborn errors of metabolism: Inborn errors of metabolism are genetic disorders that result from enzyme deficiencies affecting various metabolic pathways, leading to accumulation of toxic substances or deficiency of essential metabolites.