Hereditary fructose intolerance Save

Understanding Hereditary Fructose Intolerance

Hereditary fructose intolerance (HFI) is a rare genetic disorder characterized by the body's inability to break down fructose, a natural sugar found in various fruits, vegetables, and sweeteners. It is caused by a deficiency of the enzyme aldolase B, which is responsible for metabolizing fructose.

HFI is an autosomal recessive disorder, meaning both parents must carry the defective gene for their child to be affected. The condition usually manifests in infancy when fructose is introduced into the diet. However, some individuals may not experience symptoms until later in life.

1. Symptoms:
• Abdominal pain and bloating
• Nausea and vomiting
• Diarrhea
• Low blood sugar levels
• Failure to thrive (in infants)
• Generalized weakness and fatigue

Diagnosing HFI requires specialized testing to measure enzyme activity and identify genetic mutations. It is crucial to receive an accurate diagnosis to manage the condition effectively.

Complications:

Without proper management, HFI can lead to severe complications. The inability to metabolize fructose can result in an accumulation of toxic substances within the liver, causing liver damage and dysfunction. This can lead to liver failure if left untreated.

Dietary Management:

The primary treatment for HFI involves strict avoidance of all sources of fructose, sucrose, and sorbitol. This includes eliminating fruits, certain vegetables, honey, table sugar, and high-fructose corn syrup from the diet.

Conclusion:

Hereditary fructose intolerance is a rare genetic disorder that affects the body's ability to metabolize fructose. It is important to recognize the symptoms, seek proper diagnosis, and implement a strict dietary management plan to prevent complications. If you suspect HFI, consult a medical professional for guidance and support.