Hereditary fructose intolerance (HFI) is a rare inherited metabolic disorder, caused by a deficiency of the enzyme fructose-1-phosphate aldolase. This enzyme is involved in the breakdown of fructose, a sugar commonly found in fruits, vegetables, and processed foods.
Diagnosis of HFI is based on the patient’s medical history, physical examination and laboratory tests. The laboratory tests may include an assessment of fructose levels in the blood and urine, as well as a genetic test to detect mutations in the fructose-1-phosphate aldolase gene.
Differential diagnosis of HFI includes other inherited metabolic disorders, such as galactosemia and maple syrup urine disease, as well as other conditions that can cause similar symptoms, such as celiac disease and food allergies.
Treatment for HFI involves avoiding foods that contain fructose, as well as other sugars, such as sucrose, glucose and lactose. The patient should also take supplemental enzymes to help break down the sugars in the food they eat.
The prognosis for HFI is good, as long as the patient follows a strict diet and takes their medications as prescribed. However, if the patient does not follow their diet, they may experience symptoms such as abdominal pain, nausea, and vomiting.