Fruktózuria

Fruktózuria is a rare genetic disorder that affects the body's ability to process fructose, a simple sugar found in many fruits and processed foods. People with fruktózuria have a deficiency of the enzyme aldolase B, which is necessary for the proper breakdown and absorption of fructose in the small intestine.

When fructose enter the bloodstream, it builds up to toxic levels, causing a range of symptoms, including vomiting, diarrhea, and abdominal pain. If left untreated, the condition can lead to severe dehydration and electrolyte imbalances. In some cases, fruktózuria can also cause kidney damage and impair liver function.

The symptoms of fruktózuria typically manifest after consuming fructose or fructose-containing foods. The severity of the symptoms can vary depending on the individual's degree of enzyme deficiency and their overall health. Infants and young children are more likely to be severely affected, while older children and adults may experience milder symptoms.

Fruktózuria is usually diagnosed through a combination of medical history, physical examination, and laboratory tests, including genetic testing and urine analysis. Treatment typically involves a strict diet that excludes fructose or significantly limits its intake. In some cases, medication may be prescribed to manage symptoms and prevent complications. If left untreated, fruktózuria can lead to a range of long-term health problems, making early diagnosis and treatment essential.