fruktózintoleranciában

Fruktózintolerancia, also known as hereditary fructose intolerance (HFI), is a rare autosomal recessive metabolic disorder. It is caused by a deficiency in the enzyme aldolase B, which is responsible for breaking down fructose in the liver. When fructose cannot be properly metabolized, it accumulates in the liver and other organs, leading to a range of symptoms.

Symptoms typically appear after an infant begins to consume foods containing fructose, usually around the time of weaning. These symptoms can include vomiting, poor weight gain, lethargy, irritability, and hypoglycemia (low blood sugar). In the long term, chronic fructose exposure can lead to liver damage, kidney problems, and even growth retardation.

The diagnosis of fructose intolerance is usually made through a fructose tolerance test, where the patient's blood sugar and fructose levels are monitored after consuming fructose. Genetic testing can also confirm the diagnosis.

The only effective treatment for fructose intolerance is a strict lifelong avoidance of fructose, sucrose (which is broken down into glucose and fructose), and sorbitol. This requires careful attention to diet and reading food labels. With a carefully managed diet, individuals with fructose intolerance can lead healthy lives. However, accidental ingestion of fructose can lead to acute and severe symptoms.