Which are the causes of Hereditary Fructose Intolerance?

Hereditary Fructose Intolerance (HFI) is a rare genetic disorder that affects the body's ability to metabolize fructose, a type of sugar found in many fruits, vegetables, and sweeteners. This condition is caused by a deficiency of the enzyme aldolase B, which is responsible for breaking down fructose in the liver.

The primary cause of Hereditary Fructose Intolerance is a mutation in the ALDOB gene. This gene provides instructions for making the aldolase B enzyme. When there is a mutation in this gene, the enzyme is either absent or not functional, leading to the inability to properly process fructose.

Hereditary Fructose Intolerance is an autosomal recessive disorder. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. If a person inherits only one copy of the mutated gene, they are considered a carrier and do not experience symptoms of HFI.

The symptoms of Hereditary Fructose Intolerance occur when fructose is consumed. When a person with HFI ingests fructose, it cannot be broken down and metabolized properly, leading to a buildup of toxic substances in the liver. This can result in a range of symptoms, including severe abdominal pain, vomiting, nausea, bloating, diarrhea, and low blood sugar levels.

It is important to note that Hereditary Fructose Intolerance is a genetic disorder and not caused by lifestyle or environmental factors. It is present from birth and can be diagnosed through genetic testing or by observing the symptoms after fructose consumption.

Managing Hereditary Fructose Intolerance involves strict avoidance of fructose and related sugars. Individuals with HFI must follow a specialized diet that eliminates fructose, sucrose, and sorbitol from their food and beverages. This requires careful reading of food labels and avoiding certain fruits, vegetables, sweeteners, and processed foods that contain fructose or high-fructose corn syrup.

Early diagnosis and proper management of Hereditary Fructose Intolerance are crucial. If left untreated, HFI can lead to serious complications, including liver and kidney damage. With the right dietary modifications, individuals with HFI can lead normal, healthy lives.