Essential fructosuria Save

Essential fructosuria is a rare genetic disorder that affects the way the body processes fructose. Fructose is a simple sugar found in many fruits and vegetables, as well as in sweeteners like high fructose corn syrup. In people with essential fructosuria, the body is unable to properly break down fructose, leading to a buildup of fructose in the blood and urine.

Essential fructosuria is caused by a mutation in the gene that codes for the enzyme fructokinase. Fructokinase is responsible for converting fructose to fructose-1-phosphate, which can then be used by the body for energy. When fructokinase is not functioning properly, fructose is not properly metabolized and accumulates in the blood and urine.

Symptoms of essential fructosuria are usually mild or nonexistent, and the disorder is generally considered benign. The most common symptom is sweet-smelling urine, due to the presence of fructose in the urine. Some people with essential fructosuria may also experience bloating, diarrhea, or abdominal pain after consuming large amounts of fructose.

Diagnosis of essential fructosuria is typically made through a urine test that detects the presence of fructose. Genetic testing may also be done to confirm the diagnosis.

There is no specific treatment for essential fructosuria, as the disorder is generally considered benign and does not require intervention. However, individuals with essential fructosuria should avoid consuming large amounts of fructose, as this can exacerbate symptoms. It is important to note that essential fructosuria is not the same as hereditary fructose intolerance, a more severe disorder that can cause serious health problems if not properly managed.

In conclusion, essential fructosuria is a rare genetic disorder that affects the way the body processes fructose. While symptoms are generally mild and the disorder is considered benign, individuals with essential fructosuria should avoid consuming large amounts of fructose to prevent exacerbation of symptoms.