Causes
Inhereditary fructose intolerance (HFI) is a genetic disorder caused by a deficiency of the enzyme aldolase B, which metabolizes fructose. An individual must inherit two copies of the defective gene (one from each parent) to develop the condition, as it is inherited in an autosomal recessive pattern.
Symptoms
When fructose is consumed, hereditary fructose intolerance can cause the following symptoms:
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Consuming fructose-containing foods and beverages can cause severe abdominal pain and discomfort.
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After ingesting fructose, nausea and vomiting may occur.
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Symptoms of diarrhea include bloating and gas, as well as diarrhea.
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Low blood sugar levels (hypoglycemia) can result from impaired gluconeogenesis.
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Infants and children who fail to thrive may experience poor growth and development.
Diagnosis
Hereditary fructose intolerance is typically diagnosed by:
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HFI symptoms may be revealed by a thorough medical history and physical examination.
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Inquiring about dietary habits, particularly fructose consumption, can provide useful information.
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Genetic testing can confirm the diagnosis of hereditary fructose intolerance by identifying mutations in the ALDOB gene.
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The elimination diet is used to evaluate a person's response to removing fructose from their diet.
Treatment
In most cases, hereditary fructose intolerance is treated by avoiding foods and beverages containing fructose, sucrose, and sorbitol.
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Follow a strict low-fructose diet and avoid foods such as fruits, honey, high-fructose corn syrup, and certain vegetables.
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Supplementing nutrition, such as vitamin C and certain carbohydrates, that may be lacking due to dietary restrictions.
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Wearing a medical alert bracelet or necklace to alert healthcare providers to your diagnosis in an emergency.
Prevention
Individuals with a family history of hereditary fructose intolerance may benefit from genetic counseling to assess their risk of inheriting the condition and to discuss options for family planning.
Conclusion
The genetic disorder hereditary fructose intolerance is characterized by a deficiency of the enzyme aldolase B, resulting in an inability to metabolize fructose. Symptoms include abdominal pain, nausea, vomiting, diarrhea, and hypoglycemia after consuming fructose-containing foods or beverages. Medical history, physical examination, genetic testing, and dietary assessment are used to diagnose diabetes. During treatment, fructose-containing foods and beverages are strictly avoided, along with nutritional supplements. Genetic counseling may help individuals understand their risk of hereditary fructose intolerance and make informed decisions about family planning, but it cannot prevent hereditary fructose intolerance. In order to improve outcomes for individuals with hereditary fructose intolerance, early diagnosis and management are crucial.
