Hereditary Fructose Intolerance synonyms
What other names are the Hereditary Fructose Intolerance known by? Synonyms and other terms with which Hereditary Fructose Intolerance is known.
Hereditary Fructose Intolerance (HFI), also known as fructosemia or aldolase B deficiency, is a rare genetic disorder that affects the body's ability to metabolize fructose. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene (one from each parent) to develop the condition.
HFI is caused by a deficiency of the enzyme aldolase B, which is responsible for breaking down fructose in the liver. Without this enzyme, fructose cannot be properly metabolized, leading to a buildup of toxic substances within the liver and kidneys.
Individuals with HFI often experience symptoms shortly after consuming foods or beverages containing fructose, sucrose, or sorbitol. These symptoms may include severe abdominal pain, nausea, vomiting, bloating, diarrhea, and low blood sugar levels (hypoglycemia). If left untreated, HFI can lead to liver and kidney damage.
Diagnosis of HFI typically involves a combination of medical history, physical examination, and laboratory tests. Genetic testing can confirm the presence of the defective gene responsible for the condition.
Treatment for HFI involves strict avoidance of fructose and other related sugars in the diet. This requires careful reading of food labels and avoiding foods and beverages that contain high amounts of fructose or its derivatives. A registered dietitian can provide guidance on creating a suitable diet plan.
Prognosis for individuals with HFI is generally good if the condition is properly managed through dietary modifications. With a fructose-free diet, symptoms can be controlled, and the risk of long-term complications can be minimized.
In conclusion, Hereditary Fructose Intolerance (HFI) is a rare genetic disorder characterized by the body's inability to metabolize fructose due to a deficiency of the aldolase B enzyme. It can cause various gastrointestinal symptoms and requires strict dietary management to prevent complications. Early diagnosis and adherence to a fructose-free diet are crucial for individuals with HFI to lead a healthy life.
