Hereditary fructose intolerance

Definition

Hereditary fructose intolerance is a genetic condition where the body cannot properly metabolize fructose, a sugar found in many fruits and sweeteners. This disorder arises due to a deficiency of the enzyme aldolase B, leading to a buildup of toxic substances that can cause severe health issues. Individuals with this condition must avoid fructose in their diet to prevent symptoms like hypoglycemia, abdominal pain, and liver damage.

5 Must Know Facts For Your Next Test

1. Hereditary fructose intolerance is inherited in an autosomal recessive pattern, meaning both parents must carry the gene for a child to be affected.
2. Symptoms of hereditary fructose intolerance typically appear after introducing foods containing fructose into an infant's diet, often around 6 months of age.
3. Avoidance of fructose and sucrose is essential for managing hereditary fructose intolerance; this includes eliminating fruits, honey, and many processed foods from the diet.
4. Untreated hereditary fructose intolerance can lead to serious complications such as liver failure, kidney damage, and growth delays due to malnutrition.
5. Genetic testing can confirm a diagnosis of hereditary fructose intolerance by identifying mutations in the ALDOB gene responsible for aldolase B production.

Review Questions

• How does the deficiency of aldolase B enzyme contribute to the symptoms experienced by individuals with hereditary fructose intolerance?
  • The deficiency of aldolase B enzyme impairs the body's ability to break down fructose properly. This leads to an accumulation of toxic substances in the liver and other organs, causing symptoms such as abdominal pain, hypoglycemia, and potential liver damage. Understanding this connection highlights why dietary restrictions are crucial for managing the condition.
• Discuss the dietary management strategies necessary for individuals diagnosed with hereditary fructose intolerance and their importance in preventing complications.
  • Dietary management for individuals with hereditary fructose intolerance involves strict avoidance of all sources of fructose and sucrose. This includes not only obvious sources like fruits and honey but also hidden sugars in processed foods. By adhering to these dietary restrictions, individuals can prevent serious complications such as liver failure and ensure proper nutrition and health.
• Evaluate the implications of hereditary fructose intolerance on patient quality of life and the necessity for genetic counseling.
  • Hereditary fructose intolerance significantly impacts patient quality of life due to the strict dietary limitations and the constant vigilance required to avoid fructose-containing foods. This can lead to social challenges, nutritional deficiencies, and psychological stress. Genetic counseling is essential for affected families to understand inheritance patterns, manage dietary needs effectively, and provide support for coping with this lifelong condition.

Related terms

Aldolase B: Aldolase B is an enzyme that plays a crucial role in the metabolism of fructose. Its deficiency leads to the accumulation of toxic metabolites, causing hereditary fructose intolerance.

Fructose: Fructose is a simple sugar found in many plants, fruits, and honey. It is metabolized in the liver and can be harmful to individuals with hereditary fructose intolerance.

Galactosemia: Galactosemia is another genetic metabolic disorder that affects how the body processes galactose, similar to how hereditary fructose intolerance affects fructose metabolism.